Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.S136Splc

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.S136Splc
c.406+3G>T
Surrounding Variants
1 paper
NM_004429.5
p.S136Splc
c.406+4A>G
2 papers
NM_004429.5
p.S136Splc
c.406+2T>C
3 papers
NM_004429.5
p.S136Splc
c.406+2T>G
3 papers
NM_004429.5
p.S136L
c.407C>T
2 papers
NM_004429.5
p.S136Splc
c.406+1G>A
2 papers
NM_004429.5
p.T135N
c.404C>A
2 papers
NM_004429.5
p.I134I
c.402T>C
3 papers
NM_004429.5
p.Y133delFs
c.398delA
1 paper
NM_004429.5
p.Y133fs
c.397_398fs
1 paper
NM_004429.5
p.T135insFs
c.404_405ins8
1 paper
NM_004429.5
p.F126fs
c.376_377fs
6 papers
NM_004429.5
p.F126_K128delFs
c.377_384del8
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."