Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.K54insFs

SHH

643 papers

RefSeq Summary

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior lim...

Pfam Domains

HH_signalaa 24–184UCSCHedgehog amino-terminal signalling domain
Hintaa 186–448UCSCHint module

Gene Aliases

HGNC Name

sonic hedgehog signaling molecule

HGNC Previous Symbols

HPE3; HLP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000193.4
p.K54insFs
c.161_162ins4
Surrounding Variants
2 papers
NM_000193.4
p.E53K
c.157G>A
2 papers
NM_000193.4
p.N50_L56delFs
c.148_166del19
2 papers
NM_000193.4
p.A52T
c.154G>A
3 papers
NM_000193.4
p.G57S
c.169G>A
2 papers
NM_000193.4
p.V51M
c.151G>A
1 paper
NM_000193.4
p.S59C
c.175A>T
1 paper
NM_000193.4
p.P49L
c.146C>T
1 paper
NM_000193.4
p.I48insFs
c.143_144insA
1 paper
NM_000193.4
p.R61S
c.183G>T
1 paper
NM_000193.4
p.R61S
c.183G>C
2 papers
NM_000193.4
p.Q46*
c.136C>T
2 papers
NM_000193.4
p.K38_K45del8
c.112_134del24
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