Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.R101M

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.R101M
c.302G>T
Surrounding Variants
1 paper
NM_000193.4
p.R101R
c.303G>A
3 papers
NM_000193.4
p.R101delFs
c.301_302delCT
1 paper
NM_000193.4
p.R101fs
c.301_302fs
3 papers
NM_000193.4
p.C102R
c.304T>C
6 papers
NM_000193.4
p.C102Y
c.305G>A
2 papers
NM_000193.4
p.C102_K103insFs
c.306_307insAG
2 papers
NM_000193.4
p.K103*
c.307A>T
1 paper
NM_000193.4
p.C102delFs
c.304_305delCA
1 paper
NM_000193.4
p.D104Y
c.310G>T
1 paper
NM_000193.4
p.D104G
c.311A>G
9 papers
NM_000193.4
p.K105*
c.313A>T
2 papers
NM_000193.4
p.Q100_R101Splc
c.301-19G>A
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