Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.C28*

IHH

244 papers

RefSeq Summary

This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is in...

Pfam Domains

HH_signalaa 28–189UCSCHedgehog amino-terminal signalling domain
Hintaa 191–397UCSCHint module

Gene Aliases

HGNC Name

Indian hedgehog signaling molecule

HGNC Alias Symbols

HHG2; BDA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002181.4
p.C28*
c.84C>A
Surrounding Variants
1 paper
NM_002181.4
p.C28S
c.83G>C
1 paper
NM_002181.4
p.C28S
c.82T>A
2 papers
NM_002181.4
p.P30T
c.88C>A
1 paper
NM_002181.4
p.G27S
c.79G>A
1 paper
NM_002181.4
p.L18_W26delins
c.53_78delinsGGGCC
1 paper
NM_002181.4
p.L20ins9
c.59_60ins27
1 paper
NM_002181.4
p.L18L
c.54G>C
1 paper
NM_002181.4
p.R39G
c.115C>G
1 paper
NM_002181.4
p.R38_R42delFs
c.112_124del13
1 paper
NM_002181.4
p.C13*
c.39C>A
1 paper
NM_002181.4
p.L44P
c.131T>C
1 paper
NM_002181.4
p.F12L
c.36C>G
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