Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.P90delFs

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.P90delFs
c.269delG
Surrounding Variants
1 paper
NM_021973.3
p.G81_P89del9
c.241_266del27
1 paper
NM_021973.3
p.L92R
c.275T>G
1 paper
NM_021973.3
p.D76_G88del13
c.226_263del39
1 paper
NM_021973.3
p.G94R
c.280G>A
1 paper
NM_021973.3
p.G94E
c.281G>A
1 paper
NM_021973.3
p.P95A
c.283C>G
1 paper
NM_021973.3
p.P97P
c.291G>A
1 paper
NM_021973.3
p.V83delFs
c.247delC
1 paper
NM_021973.3
p.V98A
c.293T>C
5 papers
NM_021973.3
p.V83L
c.247G>T
5 papers
NM_021973.3
p.V83L
c.247G>C
1 paper
NM_021973.3
p.R101R
c.303A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."