Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.Q388*

SMAD7

197 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor typ...

Pfam Domains

MH1aa 92–202UCSCMH1 domain
MH1aa 92–202UCSCMH1 domain
MH2aa 259–424UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 7

HGNC Previous Symbols

MADH8; MADH7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005904.4
p.Q388*
c.1162C>T
Surrounding Variants
1 paper
NM_005904.4
p.T391M
c.1172C>T
1 paper
NM_005904.4
p.T391T
c.1173G>A
2 papers
NM_005904.4
p.K401E
c.1201A>G
1 paper
NM_005904.4
p.K401Q
c.1201A>C
1 paper
NM_005904.4
p.A374A
c.1122G>A
1 paper
NM_005904.4
p.A374V
c.1121C>T
2 papers
NM_005904.4
p.G402G
c.1206C>G
1 paper
NM_005904.4
p.C406C
c.1218C>T
1 paper
NM_005904.4
p.R409H
c.1226G>A
1 paper
NM_005904.4
p.S365A
c.1093T>G
1 paper
NM_005904.4
p.P362S
c.1084C>T
1 paper
NM_005904.4
p.P416Q
c.1247C>A
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