Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.P130S

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.P130S
c.388C>T
Surrounding Variants
1 paper
NM_021973.3
p.V129V
c.387A>G
1 paper
NM_021973.3
p.P130P
c.390C>A
1 paper
NM_021973.3
p.D132H
c.394G>C
1 paper
NM_021973.3
p.D132N
c.394G>A
1 paper
NM_021973.3
p.K137K
c.411A>G
1 paper
NM_021973.3
p.E121E
c.363A>G
1 paper
NM_021973.3
p.A120D
c.359C>A
1 paper
NM_021973.3
p.T140T
c.420C>A
1 paper
NM_021973.3
p.R142H
c.425G>A
1 paper
NM_021973.3
p.A144D
c.431C>A
1 paper
NM_021973.3
p.Q113H
c.339G>T
1 paper
NM_021973.3
p.Q113H
c.339G>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."