Varaico: Literature-Extracted Genetic Variants

Gene:DMWD
Variant:p.P417Q

DMWD

68 papers

Pfam Domains

WD40aa 277–312UCSCWD domain, G-beta repeat
WD40aa 321–354UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

DM1 locus, WD repeat containing

HGNC Alias Symbols

DMR-N9; gene59; D19S593E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004943.2
p.P417Q
c.1250C>A
Surrounding Variants
1 paper
NM_004943.2
p.L421V
c.1261C>G
1 paper
NM_004943.2
p.E406K
c.1216G>A
1 paper
NM_004943.2
p.A387V
c.1160C>T
1 paper
NM_004943.2
p.P454_P455insFs
c.1362_1363insG
1 paper
NM_004943.2
p.P455fs
c.1363_1364fs
1 paper
NM_004943.2
p.L456delFs
c.1366delG
2 papers
NM_004943.2
p.L456fs
c.1366_1367fs
3 papers
NM_004943.2
p.L456delFs
c.1367delA
1 paper
NM_004943.2
p.R458C
c.1372C>T
1 paper
NM_004943.2
p.G358delFs
c.1073delC
1 paper
NM_004943.2
p.G358fs
c.1072_1073fs
1 paper
NM_004943.2
p.T351T
c.1053C>T
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