Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.Y76*

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.Y76*
c.228C>A
Surrounding Variants
1 paper
NM_004429.5
p.Y76*
c.228C>G
1 paper
NM_004429.5
p.Y76C
c.227A>G
1 paper
NM_004429.5
p.K77fs
c.229_230fs
2 papers
NM_004429.5
p.K77_L78delFs
c.229_232del4
4 papers
NM_004429.5
p.L78P
c.233T>C
1 paper
NM_004429.5
p.Y79fs
c.235_236fs
1 paper
NM_004429.5
p.Y79_R82delFs
c.237_246del10
5 papers
NM_004429.5
p.E74*
c.220G>T
1 paper
NM_004429.5
p.Y73*
c.219T>A
1 paper
NM_004429.5
p.Y73*
c.219T>G
1 paper
NM_004429.5
p.L80P
c.239T>C
1 paper
NM_004429.5
p.Y73fs
c.217_218fs
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