Varaico: Literature-Extracted Genetic Variants

Gene:DMPK
Variant:p.V113E

DMPK

383 papers

RefSeq Summary

The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include...

Pfam Domains

Pkinaseaa 71–339UCSCProtein kinase domain
DMPK_coilaa 470–530UCSCDMPK coiled coil domain like

Gene Aliases

HGNC Name

DM1 protein kinase

HGNC Previous Symbol

DM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004409.5
p.V113E
c.338T>A
Surrounding Variants
1 paper
NM_004409.5
p.F116F
c.348C>T
1 paper
NM_004409.5
p.V113_F116del4
c.337_347del12
2 papers
NM_004409.5
p.R117H
c.350G>A
1 paper
NM_004409.5
p.C115_E119del0
c.344_355del12
1 paper
NM_004409.5
p.E112_V113Splc
c.337-23C>T
1 paper
NM_004409.5
p.R120delFs
c.360delC
1 paper
NM_004409.5
p.D121E
c.363C>G
1 paper
NM_004409.5
p.G126_R129del4
c.376_386del12
1 paper
NM_004409.5
p.I131I
c.393C>T
1 paper
NM_004409.5
p.Q133_L134insT
c.397_401ins3
1 paper
NM_004409.5
p.E112_V113Splc
c.336+9C>T
1 paper
NM_004409.5
p.F138fs
c.412_413fs
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