Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.Y7C

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.Y7C
c.20A>G
Surrounding Variants
1 paper
NM_004821.3
p.A8T
c.22G>A
2 papers
NM_004821.3
p.H10Y
c.28C>T
1 paper
NM_004821.3
p.L3P
c.8T>C
1 paper
NM_004821.3
p.N2S
c.5A>G
2 papers
NM_004821.3
p.N2D
c.4A>G
1 paper
NM_004821.3
p.M1insFs
c.2dupT
2 papers
NM_004821.3
p.H13Y
c.37C>T
1 paper
NM_004821.3
p.H15L
c.44A>T
1 paper
NM_004821.3
p.P16S
c.46C>T
1 paper
NM_004821.3
p.P18S
c.52C>T
1 paper
NM_004821.3
p.P18A
c.52C>G
1 paper
NM_004821.3
p.P18L
c.53C>T
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."