Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L355V

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.L355V
c.1063C>G
Surrounding Variants
4 papers
NM_000193.4
p.I354T
c.1061T>C
1 paper
NM_000193.4
p.T353insFs
c.1059dupC
1 paper
NM_000193.4
p.T353A
c.1057A>G
1 paper
NM_000193.4
p.I356del1
c.1066_1067delGAT
1 paper
NM_000193.4
p.G352D
c.1055G>A
3 papers
NM_000193.4
p.Q351*
c.1051C>T
1 paper
NM_000193.4
p.T349_A350delFs
c.1047_1050del4
1 paper
NM_000193.4
p.A346_T349del4
c.1036_1046del12
2 papers
NM_000193.4
p.L360L
c.1078C>T
1 paper
NM_000193.4
p.L360R
c.1079T>G
1 paper
NM_000193.4
p.T349_A350insFs
c.1047_1048ins4
1 paper
NM_000193.4
p.T349K
c.1046C>A
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