Varaico: Literature-Extracted Genetic Variants

MYO1A

172 papers

RefSeq Summary

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional m...

Pfam Domains

Myosin_headaa 10–681UCSCMyosin head (motor domain)

IQaa 698–718UCSCIQ calmodulin-binding motif

IQaa 744–764UCSCIQ calmodulin-binding motif

Myosin_TH1aa 860–1042UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin IA

HGNC Previous Symbols

MYHL; DFNA48; BBMI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005379.4

p.R360Q

c.1079G>A

Surrounding Variants

1 paper

NM_005379.4

p.W356L

c.1067G>T

1 paper

NM_005379.4

p.F354delFs

c.1061_1062delAA

1 paper

NM_005379.4

p.K366_V367Splc

c.1098+2C>G

1 paper

NM_005379.4

p.Q337_A338Splc

c.1011+2T>G

1 paper

NM_005379.4

p.V335F

c.1003G>T

1 paper

NM_005379.4

p.E312del1

c.934_935delTTC

7 papers

NM_005379.4

p.V306M

c.916G>A

1 paper

NM_005379.4

p.G298Splc

c.893-2A>C

1 paper

NM_005379.4

p.G298Splc

c.893-12T>A

1 paper

NM_005379.4

p.R297S

c.891A>T

1 paper

NM_005379.4

p.R297S

c.891A>C

1 paper

NM_005379.4

p.G296E

c.887G>A