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

4 papers

NM_005379.4

p.P426L

c.1277C>T

Surrounding Variants

1 paper

NM_005379.4

p.F433L

c.1297T>C

1 paper

NM_005379.4

p.L441F

c.1321C>T

1 paper

NM_005379.4

p.I449M

c.1347C>G

1 paper

NM_005379.4

p.E456G

c.1367A>G

1 paper

NM_005379.4

p.L458R

c.1373T>G

1 paper

NM_005379.4

p.G461A

c.1382G>C

1 paper

NM_005379.4

p.E483K

c.1447G>A

1 paper

NM_005379.4

p.Q488H

c.1464G>T

1 paper

NM_005379.4

p.R504G

c.1510C>G

1 paper

NM_005379.4

p.G510V

c.1529G>T

1 paper

NM_005379.4

p.R529*

c.1585C>T

1 paper

NM_005379.4

p.R529Q

c.1586G>A