Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D405_R406Fs

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.D405_R406Fs
c.1215_1217delinsAFs
Surrounding Variants
1 paper
NM_000193.4
p.D405insFs
c.1215dupC
1 paper
NM_000193.4
p.G407insFs
c.1220_1221insT
1 paper
NM_000193.4
p.D405V
c.1214A>T
1 paper
NM_000193.4
p.D405fs
c.1213_1214fs
1 paper
NM_000193.4
p.G408D
c.1223G>A
1 paper
NM_000193.4
p.G408fs
c.1222_1223fs
1 paper
NM_000193.4
p.G408delFs
c.1223delC
2 papers
NM_000193.4
p.G404_G408del0
c.1210_1224del15
3 papers
NM_000193.4
p.G410S
c.1228G>A
1 paper
NM_000193.4
p.G402G
c.1206C>T
1 paper
NM_000193.4
p.D405_G409del0
c.1213_1227del15
1 paper
NM_000193.4
p.G410G
c.1230C>T
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