Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D396fs

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.D396fs
c.1186_1187fs
Surrounding Variants
2 papers
NM_000193.4
p.R397C
c.1189C>T
2 papers
NM_000193.4
p.L386_R394del0
c.1157_1180del24
1 paper
NM_000193.4
p.G398S
c.1192G>A
1 paper
NM_000193.4
p.R394insFs
c.1180_1181insT
1 paper
NM_000193.4
p.A393del1
c.1177_1178delCGC
2 papers
NM_000193.4
p.A393V
c.1178C>T
1 paper
NM_000193.4
p.G398G
c.1194C>T
3 papers
NM_000193.4
p.A393T
c.1177G>A
1 paper
NM_000193.4
p.D400N
c.1198G>A
1 paper
NM_000193.4
p.A391delFs
c.1172delG
1 paper
NM_000193.4
p.A391V
c.1172C>T
1 paper
NM_000193.4
p.A391E
c.1172C>A
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