Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.W14*

SMAD6

211 papers

RefSeq Summary

The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducer...

Pfam Domains

MH1aa 172–270UCSCMH1 domain
MH2aa 329–493UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 6

HGNC Previous Symbols

MADH7; MADH6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_005585.5
p.W14*
c.42G>A
Surrounding Variants
6 papers
NM_005585.5
p.R15*
c.43C>T
9 papers
NM_005585.5
p.W14*
c.41G>A
3 papers
NM_005585.5
p.W14R
c.40T>A
3 papers
NM_005585.5
p.W14R
c.40T>C
2 papers
NM_005585.5
p.L13H
c.38T>A
1 paper
NM_005585.5
p.R17delFs
c.50delG
1 paper
NM_005585.5
p.R17fs
c.49_50fs
1 paper
NM_005585.5
p.R12*
c.34C>T
1 paper
NM_005585.5
p.R11_R12delFs
c.33_34delGC
1 paper
NM_005585.5
p.L9P
c.26T>C
1 paper
NM_005585.5
p.L9_V10delFs
c.27_28delGG
1 paper
NM_005585.5
p.L9fs
c.25_26fs
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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."