Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.T107A

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
3 papers
NM_004821.3
p.T107A
c.319A>G
Surrounding Variants
2 papers
NM_004821.3
p.R105*
c.313A>T
1 paper
NM_004821.3
p.I110L
c.328A>C
1 paper
NM_004821.3
p.I110T
c.329T>C
1 paper
NM_004821.3
p.K102R
c.305A>G
1 paper
NM_004821.3
p.S112G
c.334A>G
1 paper
NM_004821.3
p.K102E
c.304A>G
1 paper
NM_004821.3
p.K101Q
c.301A>C
1 paper
NM_004821.3
p.A115V
c.344C>T
1 paper
NM_004821.3
p.S98A
c.292T>G
1 paper
NM_004821.3
p.E116*
c.346G>T
2 papers
NM_004821.3
p.E116V
c.347A>T
1 paper
NM_004821.3
p.E116G
c.347A>G
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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."