Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.S296fs

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
4 papers
NM_002181.4
p.S296fs
c.886_887fs
Surrounding Variants
4 papers
NM_002181.4
p.S296_H297delFs
c.887_890del4
4 papers
NM_002181.4
p.V298M
c.892G>A
1 paper
NM_002181.4
p.T293A
c.877A>G
1 paper
NM_002181.4
p.T293_F294insC
c.877_881ins3
1 paper
NM_002181.4
p.F290L
c.870C>G
1 paper
NM_002181.4
p.F290L
c.870C>A
1 paper
NM_002181.4
p.F290L
c.868T>C
6 papers
NM_002181.4
p.P286L
c.857C>T
1 paper
NM_002181.4
p.P286Q
c.857C>A
1 paper
NM_002181.4
p.H283_E285del3
c.847_854del9
1 paper
NM_002181.4
p.T279M
c.836C>T
1 paper
NM_002181.4
p.F278C
c.833T>G
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