SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
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Gene profile

EIF2B3

HGNC:3259 · SaudiVarKB evidence summary derived from retained literature mentions.

1Gene mentions
1Publications
2Linked variants
1Associated phenotypes

Associated phenotypes

Co-mentioned in EIF2B3 publications
PhenotypeIdentifierArticlesMentions
ulcerative colitis—11

Linked variants

Variants normalized to EIF2B3
VariantHGVS / rsIDArticlesMentions
c.25G>Ac.25G>A11
p.Ala9Thrp.Ala9Thr11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Not specified—211

Supporting publications

1 records
  1. 2024Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.CureusPubMed ↗
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.