Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.A389T

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.A389T
c.1165G>A
Surrounding Variants
1 paper
NM_000193.4
p.A391T
c.1171G>A
1 paper
NM_000193.4
p.A391fs
c.1171_1172fs
1 paper
NM_000193.4
p.A391V
c.1172C>T
1 paper
NM_000193.4
p.A391E
c.1172C>A
1 paper
NM_000193.4
p.A391delFs
c.1172delG
3 papers
NM_000193.4
p.A393T
c.1177G>A
1 paper
NM_000193.4
p.F380_H384del0
c.1138_1152del15
2 papers
NM_000193.4
p.A393V
c.1178C>T
1 paper
NM_000193.4
p.R394insFs
c.1180_1181insT
1 paper
NM_000193.4
p.A393del1
c.1177_1178delCGC
2 papers
NM_000193.4
p.L386_R394del0
c.1157_1180del24
5 papers
NM_000193.4
p.A383T
c.1147G>A
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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."