Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.T135delFs

HAND1

71 papers

RefSeq Summary

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asy...

Pfam Domains

HLHaa 95–147UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

heart and neural crest derivatives expressed 1

HGNC Alias Symbols

eHand; Thing1; Hxt; bHLHa27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004821.3
p.T135delFs
c.405delA
Surrounding Variants
1 paper
NM_004821.3
p.R137C
c.409C>T
1 paper
NM_004821.3
p.R137H
c.410G>A
1 paper
NM_004821.3
p.L138I
c.412C>A
2 papers
NM_004821.3
p.L138P
c.413T>C
2 papers
NM_004821.3
p.I133V
c.397A>G
1 paper
NM_004821.3
p.K132*
c.394A>T
1 paper
NM_004821.3
p.Y142H
c.424T>C
1 paper
NM_004821.3
p.K129N
c.387G>T
1 paper
NM_004821.3
p.K129N
c.387G>C
1 paper
NM_004821.3
p.I143V
c.427A>G
1 paper
NM_004821.3
p.I143I
c.429C>T
1 paper
NM_004821.3
p.A144T
c.430G>A
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."