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.S257L

c.770C>T

Surrounding Variants

1 paper

NM_005379.4

p.E259Q

c.775G>C

3 papers

NM_005379.4

p.R262*

c.784C>T

1 paper

NM_005379.4

p.Q248_S249Splc

c.745-1G>A

1 paper

NM_005379.4

p.S269del1

c.805_806delGGA

1 paper

NM_005379.4

p.S269_M270del1

c.806_808delTGG

1 paper

NM_005379.4

p.L272P

c.815T>C

1 paper

NM_005379.4

p.V277L

c.829G>T

1 paper

NM_005379.4

p.V277L

c.829G>C

1 paper

NM_005379.4

p.V277M

c.829G>A

2 papers

NM_005379.4

p.L274_G287del14

c.820_860del42

1 paper

NM_005379.4

p.G296E

c.887G>A

1 paper

NM_005379.4

p.R297S

c.891A>T