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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO1G

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 83 variants

5 papers

chr7:44969742 A>G

NM_033054.3

p.M489T

c.1466T>C

Myosin_head

Exome: 85.3% (AC=1243681, hom=531157)Genome: 88.0% (AC=133534, hom=59002)81 overlapping SVs

3 papers

chr7:44977022 C>T

NM_033054.3

p.V49M

c.145G>A

Myosin_head

Exome: 20.4% (AC=298797, hom=32845)Genome: 19.1% (AC=29055, hom=3135)82 overlapping SVs

2 papers

chr7:44978877 G>T

NM_033054.3

p.L29M

c.85C>A

Myosin_head

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=3, hom=0)82 overlapping SVs

2 papers

chr7:44977057 C>T

NM_033054.3

p.R37H

c.110G>A

Myosin_head

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=1, hom=0)82 overlapping SVs

2 papers

chr7:44970935 C>T

NM_033054.3

p.R324H

c.971G>A

Myosin_head

Exome: 0.0% (AC=406, hom=1)Genome: 0.0% (AC=22, hom=0)81 overlapping SVs

2 papers

chr7:44969482 A>T

NM_033054.3

p.L502H

c.1505T>A

Myosin_head

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)81 overlapping SVs

2 papers

chr7:44964467 A>T

NM_033054.3

p.L860H

c.2579T>A

Myosin_TH1

exact variant not in gnomAD81 overlapping SVs

1 paper

chr7:44978960 A>T

NM_033054.3

p.M1K

c.2T>A

exact variant not in gnomAD82 overlapping SVs

1 paper

chr7:44978945 C>T

NM_033054.3

p.G6D

c.17G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a82 overlapping SVs

1 paper

chr7:44978943 G>A

NM_033054.3

p.P7S

c.19C>T

Exome: 0.0% (AC=247, hom=2)Genome: 0.2% (AC=267, hom=1)82 overlapping SVs

1 paper

chr7:44978898 T>A

NM_033054.3

p.M22L

c.64A>T

Myosin_head

Exome: 0.0% (AC=4, hom=0)Genome: n/a82 overlapping SVs

1 paper

chr7:44977032 C>CA

NM_033054.3

p.V45insFs

c.134dupT

Myosin_head

exact variant not in gnomAD82 overlapping SVs

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