Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.S205delFs

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
7 papers
NM_004429.5
p.S205delFs
c.614_615delCT
Surrounding Variants
1 paper
NM_004429.5
p.S201Y
c.602C>A
1 paper
NM_004429.5
p.R199R
c.597G>T
1 paper
NM_004429.5
p.R199insFs
c.596dupG
1 paper
NM_004429.5
p.R199W
c.595C>T
2 papers
NM_004429.5
p.E210*
c.628G>T
1 paper
NM_004429.5
p.P196fs
c.586_587fs
1 paper
NM_004429.5
p.P196delFs
c.587delC
1 paper
NM_004429.5
p.V189fs
c.565_566fs
1 paper
NM_004429.5
p.V189fs
c.565_566fs
2 papers
NM_004429.5
p.T188insFs
c.564dupT
1 paper
NM_004429.5
p.T188fs
c.562_563fs
1 paper
NM_004429.5
p.N187fs
c.559_560fs
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."