Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.G202V

HAND2

89 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 100–152UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

heart and neural crest derivatives expressed 2

HGNC Alias Symbols

dHand; Thing2; Hed; bHLHa26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021973.3
p.G202V
c.605G>T
Surrounding Variants
1 paper
NM_021973.3
p.W211*
c.632G>A
1 paper
NM_021973.3
p.W211*
c.633G>A
1 paper
NM_021973.3
p.R181R
c.543G>A
1 paper
NM_021973.3
p.R181M
c.542G>T
1 paper
NM_021973.3
p.K177*
c.529A>T
1 paper
NM_021973.3
p.K173N
c.519G>T
1 paper
NM_021973.3
p.K173N
c.519G>C
1 paper
NM_021973.3
p.I171insFs
c.512_513insGC
1 paper
NM_021973.3
p.E170K
c.508G>A
1 paper
NM_021973.3
p.A166T
c.496G>A
1 paper
NM_021973.3
p.E165Q
c.493G>C
1 paper
NM_021973.3
p.G162G
c.486C>A
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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."