Varaico: Literature-Extracted Genetic Variants

Gene:SMAD5

SMAD5

112 papers

RefSeq Summary

The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded ...

Pfam Domains

MH1aa 31–132UCSCMH1 domain
MH2aa 269–441UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 5

HGNC Previous Symbol

MADH5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 95 variants
4 papers
NM_005903.7
p.I438_H439insFs
c.1314_1315insC
2 papers
NM_005903.7
p.K44insFs
c.131dupA
2 papers
NM_005903.7
p.N361D
c.1081A>G
2 papers
NM_005903.7
p.G419S
c.1255G>A
2 papers
NM_005903.7
p.I438fs
c.1312_1313fs
2 papers
NM_005903.7
p.P460S
c.1378C>T
1 paper
NM_005903.7
p.M1R
c.2T>G
1 paper
NM_005903.7
p.F8S
c.23T>C
1 paper
NM_005903.7
p.P13delFs
c.37delC
1 paper
NM_005903.7
p.A14G
c.41C>G
1 paper
NM_005903.7
p.E27del1
c.79_81delGAG
1 paper
NM_005903.7
p.K29*
c.85A>T
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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."