Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.G300_P301insFs

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.G300_P301insFs
c.900_901insAA
Surrounding Variants
1 paper
NM_000193.4
p.P301S
c.901C>T
1 paper
NM_000193.4
p.P301P
c.903T>A
2 papers
NM_000193.4
p.L299L
c.897G>C
1 paper
NM_000193.4
p.P301ins1
c.901_902insCCT
1 paper
NM_000193.4
p.L299M
c.895C>A
1 paper
NM_000193.4
p.G297V
c.890G>T
1 paper
NM_000193.4
p.G296V
c.887G>T
2 papers
NM_000193.4
p.G296A
c.887G>C
1 paper
NM_000193.4
p.G296E
c.887G>A
3 papers
NM_000193.4
p.S295S
c.885C>T
2 papers
NM_000193.4
p.A306_S307insAG
c.916_920ins6
1 paper
NM_000193.4
p.L304_F305del2
c.910_914del6
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