Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.P41L

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.P41L
c.122C>T
Surrounding Variants
2 papers
NM_000193.4
p.T40delFs
c.119_120delGG
1 paper
NM_000193.4
p.P41S
c.121C>T
1 paper
NM_000193.4
p.L42*
c.125T>A
1 paper
NM_000193.4
p.K38_L42delFs
c.112_124del13
1 paper
NM_000193.4
p.L39P
c.116T>C
1 paper
NM_000193.4
p.K38M
c.113A>T
1 paper
NM_000193.4
p.Y44*
c.132C>G
1 paper
NM_000193.4
p.Y44*
c.132C>A
1 paper
NM_000193.4
p.P36_K37del2
c.106_110del6
2 papers
NM_000193.4
p.K37N
c.111A>C
1 paper
NM_000193.4
p.K45R
c.134A>G
1 paper
NM_000193.4
p.Y44_K45delFs
c.131_134del4
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