Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.V83L

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
5 papers
NM_021973.3
p.V83L
c.247G>C
Surrounding Variants
5 papers
NM_021973.3
p.V83L
c.247G>T
1 paper
NM_021973.3
p.V83delFs
c.247delC
1 paper
NM_021973.3
p.L75_H77del3
c.223_230del9
1 paper
NM_021973.3
p.D76_G88del13
c.226_263del39
1 paper
NM_021973.3
p.D76N
c.226G>A
1 paper
NM_021973.3
p.G81_P89del9
c.241_266del27
2 papers
NM_021973.3
p.P90delFs
c.269delG
1 paper
NM_021973.3
p.L75_D76ins6
c.223_227ins18
1 paper
NM_021973.3
p.L92R
c.275T>G
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
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