Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.M1T

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
1 paper
NM_021973.3
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_021973.3
p.M1insFs
c.2dupT
1 paper
NM_021973.3
p.S2T
c.5G>C
1 paper
NM_021973.3
p.G6del1
c.16_18delACC
2 papers
NM_021973.3
p.H9fs
c.25_26fs
1 paper
NM_021973.3
p.H9delFs
c.25_26delTG
6 papers
NM_021973.3
p.P11R
c.32C>G
1 paper
NM_021973.3
p.P11P
c.33G>T
1 paper
NM_021973.3
p.P11insFs
c.31dupC
1 paper
NM_021973.3
p.H14H
c.42C>T
1 paper
NM_021973.3
p.G17D
c.50G>A
1 paper
NM_021973.3
p.E16_Y18del3
c.46_53del9
1 paper
NM_021973.3
p.A21P
c.61G>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."