Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D88G

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.D88G
c.263A>G
Surrounding Variants
10 papers
NM_000193.4
p.D88V
c.263A>T
1 paper
NM_000193.4
p.E90Q
c.268G>C
4 papers
NM_000193.4
p.E90A
c.269A>C
1 paper
NM_000193.4
p.I84_E90Fs
c.252_270delinsGCAFs
1 paper
NM_000193.4
p.D88_E90delFs
c.263_269del7
2 papers
NM_000193.4
p.I84T
c.251T>C
1 paper
NM_000193.4
p.I84F
c.250A>T
1 paper
NM_000193.4
p.N79_T92insFs
c.237_276dup40
2 papers
NM_000193.4
p.G93insFs
c.278_279insT
1 paper
NM_000193.4
p.G93E
c.278G>A
2 papers
NM_000193.4
p.D83V
c.248A>T
1 paper
NM_000193.4
p.A94S
c.280G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."