Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.T267I

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
3 papers
NM_000193.4
p.T267I
c.800C>T
Surrounding Variants
1 paper
NM_000193.4
p.T267_A268insFs
c.801_802insA
1 paper
NM_000193.4
p.I255_T267delFs
c.765_799del35
3 papers
NM_000193.4
p.A268V
c.803C>T
1 paper
NM_000193.4
p.H270Y
c.808C>T
3 papers
NM_000193.4
p.R263_A269del7
c.787_806del21
1 paper
NM_000193.4
p.H270_L271insFs
c.810_811ins1
1 paper
NM_000193.4
p.H270insFs
c.810dupC
6 papers
NM_000193.4
p.L271P
c.812T>C
1 paper
NM_000193.4
p.L272L
c.816C>A
1 paper
NM_000193.4
p.P260insFs
c.778_779insA
3 papers
NM_000193.4
p.A275E
c.824C>A
2 papers
NM_000193.4
p.E259K
c.775G>A
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