Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.E105*

EFNB1

132 papers

RefSeq Summary

The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance ...

Pfam Domains

Ephrinaa 28–164UCSCEphrin

Gene Aliases

HGNC Name

ephrin B1

HGNC Previous Symbols

EPLG2; CFNS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004429.5
p.E105*
c.313G>T
Surrounding Variants
3 papers
NM_004429.5
p.I108insFs
c.324dupA
2 papers
NM_004429.5
p.R109delFs
c.325delC
1 paper
NM_004429.5
p.R109insFs
c.325_326insA
1 paper
NM_004429.5
p.R109fs
c.325_326fs
2 papers
NM_004429.5
p.R109C
c.325C>T
1 paper
NM_004429.5
p.R109fs
c.325_326fs
1 paper
NM_004429.5
p.T100fs
c.298_299fs
2 papers
NM_004429.5
p.V99delins
c.296_297delinsGGTGCTCG
5 papers
NM_004429.5
p.T111I
c.332C>T
2 papers
NM_004429.5
p.L98S
c.293T>C
1 paper
NM_004429.5
p.I112V
c.334A>G
2 papers
NM_004429.5
p.K113*
c.337A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."