Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.T416S

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.T416S
c.1247C>G
Surrounding Variants
2 papers
NM_000193.4
p.T416A
c.1246A>G
1 paper
NM_000193.4
p.T416P
c.1246A>C
1 paper
NM_000193.4
p.A414_L415del2
c.1240_1244del6
1 paper
NM_000193.4
p.L415_T416del2
c.1243_1247del6
1 paper
NM_000193.4
p.G411ins0
c.1231_1233dupGGC
5 papers
NM_000193.4
p.G404_G411del0
c.1210_1233del24
1 paper
NM_000193.4
p.G411G
c.1233C>T
1 paper
NM_000193.4
p.A421V
c.1262C>T
1 paper
NM_000193.4
p.G410G
c.1230C>T
1 paper
NM_000193.4
p.D405_G409del0
c.1213_1227del15
3 papers
NM_000193.4
p.G410S
c.1228G>A
2 papers
NM_000193.4
p.G404_G408del0
c.1210_1224del15
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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."