Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.P192R

SMAD2

656 papers

RefSeq Summary

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD...

Pfam Domains

MH1aa 41–171UCSCMH1 domain
MH2aa 272–443UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 2

HGNC Previous Symbol

MADH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005901.6
p.P192R
c.575C>G
Surrounding Variants
1 paper
NM_005901.6
p.P192S
c.574C>T
1 paper
NM_005901.6
p.L193delFs
c.577delG
3 papers
NM_005901.6
p.P191L
c.572C>T
1 paper
NM_005901.6
p.L193delFs
c.577_578delAG
1 paper
NM_005901.6
p.D195N
c.583G>A
1 paper
NM_005901.6
p.D195insFs
c.584_585insTC
1 paper
NM_005901.6
p.T188delFs
c.563delG
1 paper
NM_005901.6
p.Y196C
c.587A>G
1 paper
NM_005901.6
p.H198fs
c.592_593fs
1 paper
NM_005901.6
p.H198insFs
c.593dupA
1 paper
NM_005901.6
p.E185G
c.554A>G
1 paper
NM_005901.6
p.E185K
c.553G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."