Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.N369_H371del0

SMAD4

2,432 papers

RefSeq Summary

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transfor...

Pfam Domains

MH1aa 36–137UCSCMH1 domain
MH2aa 321–530UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 4

HGNC Previous Symbol

MADH4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005359.6
p.N369_H371del0
c.1107_1112del6
Surrounding Variants
4 papers
NM_005359.6
p.N369D
c.1105A>G
1 paper
NM_005359.6
p.N369fs
c.1105_1106fs
1 paper
NM_005359.6
p.V370insFs
c.1108_1109dupGT
7 papers
NM_005359.6
p.N369S
c.1106A>G
1 paper
NM_005359.6
p.S368_N369insFs
c.1104_1105insG
1 paper
NM_005359.6
p.N369delFs
c.1106delA
1 paper
NM_005359.6
p.S368insFs
c.1103_1104insG
4 papers
NM_005359.6
p.S368C
c.1103C>G
1 paper
NM_005359.6
p.S368F
c.1103C>T
1 paper
NM_005359.6
p.N369_H371del3
c.1105_1112del9
1 paper
NM_005359.6
p.V370del1
c.1108_1109delGTC
1 paper
NM_005359.6
p.V370_H371del2
c.1108_1112del6
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