Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.A428delFs

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
2 papers
NM_000193.4
p.A428delFs
c.1282delC
Surrounding Variants
2 papers
NM_000193.4
p.A428fs
c.1282_1283fs
6 papers
NM_000193.4
p.G427R
c.1279G>C
7 papers
NM_000193.4
p.G427R
c.1279G>A
1 paper
NM_000193.4
p.A430T
c.1288G>A
1 paper
NM_000193.4
p.A428_G431del0
c.1283_1291del9
1 paper
NM_000193.4
p.I432N
c.1295T>A
1 paper
NM_000193.4
p.P424L
c.1271C>T
11 papers
NM_000193.4
p.P424A
c.1270C>G
1 paper
NM_000193.4
p.A423V
c.1268C>T
1 paper
NM_000193.4
p.H433insFs
c.1299dupC
2 papers
NM_000193.4
p.W434insFs
c.1300_1301insA
3 papers
NM_000193.4
p.W434*
c.1301G>A
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