Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.L50_V51del1

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
8 papers
NM_004429.5
p.L50_V51del1
c.149_151delTGG
Surrounding Variants
2 papers
NM_004429.5
p.L50delFs
c.149delT
1 paper
NM_004429.5
p.L50*
c.149T>A
1 paper
NM_004429.5
p.G49fs
c.145_146fs
2 papers
NM_004429.5
p.G49delFs
c.146delG
1 paper
NM_004429.5
p.K48*
c.142A>T
2 papers
NM_004429.5
p.P54R
c.161C>G
16 papers
NM_004429.5
p.P54L
c.161C>T
1 paper
NM_004429.5
p.L45L
c.133C>T
1 paper
NM_004429.5
p.F44S
c.131T>C
1 paper
NM_004429.5
p.K43Splc
c.129-1G>A
3 papers
NM_004429.5
p.G57V
c.170G>T
1 paper
NM_004429.5
p.L60P
c.179T>C
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."