Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.E116G

HAND1

71 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 95–147UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

heart and neural crest derivatives expressed 1

HGNC Alias Symbols

eHand; Thing1; Hxt; bHLHa27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004821.3
p.E116G
c.347A>G
Surrounding Variants
2 papers
NM_004821.3
p.E116V
c.347A>T
1 paper
NM_004821.3
p.E116*
c.346G>T
1 paper
NM_004821.3
p.A115V
c.344C>T
1 paper
NM_004821.3
p.R118C
c.352C>T
1 paper
NM_004821.3
p.E119*
c.355G>T
1 paper
NM_004821.3
p.E119V
c.356A>T
2 papers
NM_004821.3
p.E119G
c.356A>G
1 paper
NM_004821.3
p.S112G
c.334A>G
1 paper
NM_004821.3
p.I121T
c.362T>C
1 paper
NM_004821.3
p.I110T
c.329T>C
1 paper
NM_004821.3
p.I110L
c.328A>C
1 paper
NM_004821.3
p.V124L
c.370G>T
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