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.Q930R

c.2789A>G

Surrounding Variants

1 paper

NM_005379.4

p.I935T

c.2804T>C

1 paper

NM_005379.4

p.I935_L937del3

c.2803_2810del9

1 paper

NM_005379.4

p.K918N

c.2754G>T

1 paper

NM_005379.4

p.K918insFs

c.2752_2753insA

1 paper

NM_005379.4

p.K918N

c.2754G>C

1 paper

NM_005379.4

p.R912W

c.2734C>T

1 paper

NM_005379.4

p.K949*

c.2845A>T

6 papers

NM_005379.4

p.S910P

c.2728T>C

2 papers

NM_005379.4

p.N903S

c.2708A>G

1 paper

NM_005379.4

p.M895T

c.2684T>C

1 paper

NM_005379.4

p.S961P

c.2881T>C

1 paper

NM_005379.4

p.E889*

c.2665G>T