Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.F73C

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
1 paper
NM_000193.4
p.F73C
c.218T>G
Surrounding Variants
1 paper
NM_000193.4
p.K74fs
c.220_221fs
1 paper
NM_000193.4
p.R72L
c.215G>T
1 paper
NM_000193.4
p.R72*
c.214C>T
1 paper
NM_000193.4
p.R72G
c.214C>G
2 papers
NM_000193.4
p.E71E
c.213G>A
1 paper
NM_000193.4
p.E71A
c.212A>C
5 papers
NM_000193.4
p.E71delFs
c.211delC
1 paper
NM_000193.4
p.S70insFs
c.210dupC
1 paper
NM_000193.4
p.Y62_S70ins3
c.184_210dup27
1 paper
NM_000193.4
p.R68_S70del3
c.202_209del9
1 paper
NM_000193.4
p.E63_N69ins2
c.187_207dup21
2 papers
NM_000193.4
p.L76L
c.228C>T
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