Varaico: Literature-Extracted Genetic Variants

Gene:MYO1G
Variant:p.K341*

MYO1G

74 papers

RefSeq Summary

MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 2...

Pfam Domains

Myosin_headaa 11–694UCSCMyosin head (motor domain)
Myosin_TH1aa 826–1006UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin IG

HGNC Alias Symbol

HA-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033054.3
p.K341*
c.1021A>T
Surrounding Variants
1 paper
NM_033054.3
p.R352Q
c.1055G>A
2 papers
NM_033054.3
p.R324H
c.971G>A
1 paper
NM_033054.3
p.L323V
c.967C>G
1 paper
NM_033054.3
p.P318S
c.952C>T
1 paper
NM_033054.3
p.E291K
c.871G>A
1 paper
NM_033054.3
p.V359L
c.1075G>T
1 paper
NM_033054.3
p.V359L
c.1075G>C
1 paper
NM_033054.3
p.T290M
c.869C>T
1 paper
NM_033054.3
p.R384C
c.1150C>T
1 paper
NM_033054.3
p.L394V
c.1180C>G
1 paper
NM_033054.3
p.S406C
c.1216A>T
1 paper
NM_033054.3
p.S406C
c.1216A>T
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