Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.E125G

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.E125G
c.374A>G
Surrounding Variants
2 papers
NM_004429.5
p.E125A
c.374A>C
3 papers
NM_004429.5
p.E125K
c.373G>A
1 paper
NM_004429.5
p.F126fs
c.376_377fs
6 papers
NM_004429.5
p.F126_K128delFs
c.377_384del8
4 papers
NM_004429.5
p.G123D
c.368G>A
1 paper
NM_004429.5
p.M122T
c.365T>C
4 papers
NM_004429.5
p.Y121*
c.363C>A
3 papers
NM_004429.5
p.Y121*
c.363C>G
2 papers
NM_004429.5
p.N120K
c.360C>A
2 papers
NM_004429.5
p.N120K
c.360C>G
1 paper
NM_004429.5
p.T135insFs
c.404_405ins8
4 papers
NM_004429.5
p.P119H
c.356C>A
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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."