Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L304_F305del2

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.L304_F305del2
c.910_914del6
Surrounding Variants
2 papers
NM_000193.4
p.A306_S307insAG
c.916_920ins6
1 paper
NM_000193.4
p.A306fs
c.916_917fs
1 paper
NM_000193.4
p.A306G
c.917C>G
1 paper
NM_000193.4
p.A306_S307delFs
c.917_920del4
1 paper
NM_000193.4
p.P301ins1
c.901_902insCCT
1 paper
NM_000193.4
p.V309V
c.927G>C
3 papers
NM_000193.4
p.R310C
c.928C>T
1 paper
NM_000193.4
p.P301P
c.903T>A
1 paper
NM_000193.4
p.P301S
c.901C>T
1 paper
NM_000193.4
p.G300_P301insFs
c.900_901insAA
1 paper
NM_000193.4
p.P311R
c.932C>G
2 papers
NM_000193.4
p.L299L
c.897G>C
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