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

10 papers

NM_005379.4

p.S797F

c.2390C>T

Surrounding Variants

1 paper

NM_005379.4

p.P806_A808del3

c.2416_2423del9

1 paper

NM_005379.4

p.E819K

c.2455G>A

2 papers

NM_005379.4

p.L823P

c.2468T>C

1 paper

NM_005379.4

p.Y825C

c.2474A>G

1 paper

NM_005379.4

p.K828_C829Splc

c.2485-3C>A

1 paper

NM_005379.4

p.P838S

c.2512C>T

1 paper

NM_005379.4

p.P838L

c.2513C>T

1 paper

NM_005379.4

p.G875E

c.2624G>A

1 paper

NM_005379.4

p.E889*

c.2665G>T

1 paper

NM_005379.4

p.M895T

c.2684T>C

2 papers

NM_005379.4

p.N903S

c.2708A>G

6 papers

NM_005379.4

p.S910P

c.2728T>C