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.I409M

c.1227A>G

Surrounding Variants

2 papers

NM_005379.4

p.T412N

c.1235C>A

1 paper

NM_005379.4

p.F395F

c.1185T>C

6 papers

NM_005379.4

p.E385D

c.1155G>T

5 papers

NM_005379.4

p.E385D

c.1155G>C

1 paper

NM_005379.4

p.K366_V367Splc

c.1098+2C>G

1 paper

NM_005379.4

p.R360Q

c.1079G>A

1 paper

NM_005379.4

p.W356L

c.1067G>T

1 paper

NM_005379.4

p.F354delFs

c.1061_1062delAA

4 papers

NM_005379.4

p.P426L

c.1277C>T

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.Q337_A338Splc

c.1011+2T>G