Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.H333fs

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.H333fs
c.997_998fs
Surrounding Variants
9 papers
NM_000193.4
p.V332A
c.995T>C
1 paper
NM_000193.4
p.A331T
c.991G>A
1 paper
NM_000193.4
p.V335Fs
c.1003delinsGAFs
1 paper
NM_000193.4
p.V335V
c.1005G>A
1 paper
NM_000193.4
p.A330V
c.989C>T
1 paper
NM_000193.4
p.P329S
c.985C>T
1 paper
NM_000193.4
p.P329_L337del9
c.985_1010del27
1 paper
NM_000193.4
p.L327P
c.980T>C
3 papers
NM_000193.4
p.E339*
c.1015G>T
1 paper
NM_000193.4
p.E340*
c.1018G>T
1 paper
NM_000193.4
p.A341V
c.1022C>T
2 papers
NM_000193.4
p.G323G
c.969G>T
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