Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.A193T

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.A193T
c.577G>A
Surrounding Variants
1 paper
NM_000193.4
p.A193S
c.577G>T
1 paper
NM_000193.4
p.K194K
c.582A>G
5 papers
NM_000193.4
p.S190S
c.570G>A
1 paper
NM_000193.4
p.S195S
c.585G>A
1 paper
NM_000193.4
p.G196V
c.587G>T
2 papers
NM_000193.4
p.G196E
c.587G>A
2 papers
NM_000193.4
p.G196delFs
c.587delC
1 paper
NM_000193.4
p.G197V
c.590G>T
1 paper
NM_000193.4
p.C198R
c.592T>C
2 papers
NM_000193.4
p.C198S
c.592T>A
10 papers
NM_000193.4
p.E188Q
c.562G>C
1 paper
NM_000193.4
p.C198F
c.593G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."