Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.E250K

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.E250K
c.748G>A
Surrounding Variants
4 papers
NM_002181.4
p.P251P
c.753T>C
1 paper
NM_002181.4
p.I245S
c.734T>G
1 paper
NM_002181.4
p.S241del1
c.721_722delGCT
1 paper
NM_002181.4
p.Q258*
c.772C>T
1 paper
NM_002181.4
p.F240S
c.719T>C
4 papers
NM_002181.4
p.P266insFs
c.797dupC
1 paper
NM_002181.4
p.R267C
c.799C>T
3 papers
NM_002181.4
p.R267fs
c.799_800fs
1 paper
NM_002181.4
p.R267H
c.800G>A
4 papers
NM_002181.4
p.R268C
c.802C>T
1 paper
NM_002181.4
p.R268H
c.803G>A
1 paper
NM_002181.4
p.L230_A231insFs
c.690_691insC
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