Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.E76_R77delins

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
3 papers
NM_002181.4
p.E76_R77delins
c.228_229delinsAA
Surrounding Variants
5 papers
NM_002181.4
p.R77S
c.229C>A
1 paper
NM_002181.4
p.E76E
c.228G>A
1 paper
NM_002181.4
p.E76A
c.227A>C
1 paper
NM_002181.4
p.E80K
c.238G>A
1 paper
NM_002181.4
p.I71F
c.211A>T
1 paper
NM_002181.4
p.G69insFs
c.206_207insG
1 paper
NM_002181.4
p.G69fs
c.205_206fs
1 paper
NM_002181.4
p.N84S
c.251A>G
1 paper
NM_002181.4
p.T82_N86del0
c.245_256del12
1 paper
NM_002181.4
p.D88G
c.263A>G
2 papers
NM_002181.4
p.F91L
c.271T>C
1 paper
NM_002181.4
p.A63P
c.187G>C
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