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

1–12 of 167 variants

11 papers

NM_005379.4

p.R93*

c.277C>T

11 papers

NM_005379.4

p.G662E

c.1985G>A

10 papers

NM_005379.4

p.S797F

c.2390C>T

7 papers

NM_005379.4

p.V306M

c.916G>A

6 papers

NM_005379.4

p.E385D

c.1155G>T

6 papers

NM_005379.4

p.I678F

c.2032A>T

6 papers

NM_005379.4

p.S910P

c.2728T>C

5 papers

NM_005379.4

p.Y117ins1

c.350_351insCTT

5 papers

NM_005379.4

p.E385D

c.1155G>C

5 papers

NM_005379.4

p.G674D

c.2021G>A

4 papers

NM_005379.4

p.P426L

c.1277C>T

4 papers

NM_005379.4

p.Y740*

c.2220T>G