Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.S65I

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
4 papers
NM_021973.3
p.S65I
c.194G>T
Surrounding Variants
2 papers
NM_021973.3
p.E67*
c.199G>T
1 paper
NM_021973.3
p.S70T
c.209G>C
1 paper
NM_021973.3
p.L75_D76ins6
c.223_227ins18
1 paper
NM_021973.3
p.P55H
c.164C>A
1 paper
NM_021973.3
p.D76N
c.226G>A
1 paper
NM_021973.3
p.L75_H77del3
c.223_230del9
1 paper
NM_021973.3
p.P51P
c.153C>G
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
1 paper
NM_021973.3
p.V83delFs
c.247delC
1 paper
NM_021973.3
p.D76_G88del13
c.226_263del39
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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."