Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.K64E

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.K64E
c.190A>G
Surrounding Variants
2 papers
NM_005904.4
p.K64R
c.191A>G
1 paper
NM_005904.4
p.C61C
c.183C>T
1 paper
NM_005904.4
p.R67Q
c.200G>A
1 paper
NM_005904.4
p.C60*
c.180C>A
2 papers
NM_005904.4
p.K70R
c.209A>G
1 paper
NM_005904.4
p.R57K
c.170G>A
1 paper
NM_005904.4
p.G54G
c.162C>T
2 papers
NM_005904.4
p.P75L
c.224C>T
1 paper
NM_005904.4
p.P75P
c.225C>A
1 paper
NM_005904.4
p.P78S
c.232C>T
3 papers
NM_005904.4
p.G49G
c.147G>A
1 paper
NM_005904.4
p.R46Q
c.137G>A
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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."