Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.A25_A26ins2

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.A25_A26ins2
c.75_76ins6
Surrounding Variants
1 paper
NM_021973.3
p.A25A
c.75C>A
2 papers
NM_021973.3
p.A24_A26ins1
c.72_77dup6
1 paper
NM_021973.3
p.A25_A26del1
c.75_77delGCG
1 paper
NM_021973.3
p.A24D
c.71C>A
1 paper
NM_021973.3
p.A25_A26del2
c.73_77del6
1 paper
NM_021973.3
p.A21P
c.61G>C
1 paper
NM_021973.3
p.A26_A30delFs
c.76_88del13
1 paper
NM_021973.3
p.A27_A30del0
c.81_89del9
1 paper
NM_021973.3
p.E16_Y18del3
c.46_53del9
1 paper
NM_021973.3
p.G17D
c.50G>A
5 papers
NM_021973.3
p.S36N
c.107G>A
1 paper
NM_021973.3
p.H14H
c.42C>T
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