Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.A86_A87insFs

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
2 papers
NM_004429.5
p.A86_A87insFs
c.258_261dup4
Surrounding Variants
1 paper
NM_004429.5
p.A87V
c.260C>T
3 papers
NM_004429.5
p.Q85*
c.253C>T
1 paper
NM_004429.5
p.A88fs
c.262_263fs
4 papers
NM_004429.5
p.C89R
c.265T>C
3 papers
NM_004429.5
p.C89Y
c.266G>A
1 paper
NM_004429.5
p.S90_V99del10
c.268_296del30
1 paper
NM_004429.5
p.T91delFs
c.272_273delCA
2 papers
NM_004429.5
p.R82delFs
c.246delG
1 paper
NM_004429.5
p.T91fs
c.271_272fs
1 paper
NM_004429.5
p.L80P
c.239T>C
1 paper
NM_004429.5
p.Y79_R82delFs
c.237_246del10
1 paper
NM_004429.5
p.Y79fs
c.235_236fs
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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."