Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.N96Y

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.N96Y
c.286A>T
Surrounding Variants
2 papers
NM_004429.5
p.L98S
c.293T>C
2 papers
NM_004429.5
p.V99delins
c.296_297delinsGGTGCTCG
1 paper
NM_004429.5
p.T100fs
c.298_299fs
1 paper
NM_004429.5
p.T91fs
c.271_272fs
1 paper
NM_004429.5
p.T91delFs
c.272_273delCA
1 paper
NM_004429.5
p.S90_V99del10
c.268_296del30
3 papers
NM_004429.5
p.C89Y
c.266G>A
4 papers
NM_004429.5
p.C89R
c.265T>C
1 paper
NM_004429.5
p.A88fs
c.262_263fs
1 paper
NM_004429.5
p.A87V
c.260C>T
1 paper
NM_004429.5
p.E105*
c.313G>T
2 papers
NM_004429.5
p.A86_A87insFs
c.258_261dup4
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."