Varaico: Literature-Extracted Genetic Variants

Gene:HAND2

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
1–12 of 76 variants
6 papers
NM_021973.3
p.P11R
c.32C>G
5 papers
NM_021973.3
p.S36N
c.107G>A
5 papers
NM_021973.3
p.V83L
c.247G>T
5 papers
NM_021973.3
p.V83L
c.247G>C
4 papers
NM_021973.3
p.L47P
c.140T>C
4 papers
NM_021973.3
p.S65I
c.194G>T
2 papers
NM_021973.3
p.H9fs
c.25_26fs
2 papers
NM_021973.3
p.A24_A26ins1
c.72_77dup6
2 papers
NM_021973.3
p.E67*
c.199G>T
2 papers
NM_021973.3
p.P90delFs
c.269delG
2 papers
NM_021973.3
p.G202V
c.605G>T
1 paper
NM_021973.3
p.M1T
c.2T>C
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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."