Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E63Q

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.E63Q
c.187G>C
Surrounding Variants
1 paper
NM_000193.4
p.R61S
c.183G>T
1 paper
NM_000193.4
p.R61S
c.183G>C
1 paper
NM_000193.4
p.K65*
c.193A>T
1 paper
NM_000193.4
p.I66I
c.198C>T
1 paper
NM_000193.4
p.I66I
c.198C>A
1 paper
NM_000193.4
p.S59C
c.175A>T
2 papers
NM_000193.4
p.I66_S67delFs
c.196_200del5
2 papers
NM_000193.4
p.R68fs
c.202_203fs
1 paper
NM_000193.4
p.S67delFs
c.201delG
3 papers
NM_000193.4
p.G57S
c.169G>A
2 papers
NM_000193.4
p.N50_L56delFs
c.148_166del19
1 paper
NM_000193.4
p.E63_N69ins2
c.187_207dup21
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