Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.L32R

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
5 papers
NM_004429.5
p.L32R
c.95T>G
Surrounding Variants
4 papers
NM_004429.5
p.L32P
c.95T>C
1 paper
NM_004429.5
p.E33*
c.97G>T
1 paper
NM_004429.5
p.K30_E33delFs
c.90_99del10
1 paper
NM_004429.5
p.K30fs
c.88_89fs
1 paper
NM_004429.5
p.V35insFs
c.103dupG
2 papers
NM_004429.5
p.K30delFs
c.88_89delAA
1 paper
NM_004429.5
p.A29fs
c.85_86fs
1 paper
NM_004429.5
p.L28insFs
c.84dupG
1 paper
NM_004429.5
p.L28fs
c.82_83fs
1 paper
NM_004429.5
p.W37R
c.109T>A
1 paper
NM_004429.5
p.W37R
c.109T>C
6 papers
NM_004429.5
p.W37G
c.109T>G
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