Varaico: Literature-Extracted Genetic Variants

Gene:MYO1G
Variant:p.L502H

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
2 papers
NM_033054.3
p.L502H
c.1505T>A
Surrounding Variants
1 paper
NM_033054.3
p.T525M
c.1574C>T
5 papers
NM_033054.3
p.M489T
c.1466T>C
1 paper
NM_033054.3
p.R459W
c.1375C>T
1 paper
NM_033054.3
p.Y447F
c.1340A>T
1 paper
NM_033054.3
p.R437H
c.1310G>A
1 paper
NM_033054.3
p.R437C
c.1309C>T
1 paper
NM_033054.3
p.E436Q
c.1306G>C
1 paper
NM_033054.3
p.E436K
c.1306G>A
1 paper
NM_033054.3
p.E408D
c.1224G>T
1 paper
NM_033054.3
p.E408D
c.1224G>C
1 paper
NM_033054.3
p.S406C
c.1216A>T
1 paper
NM_033054.3
p.S406C
c.1216A>T
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