Varaico: Literature-Extracted Genetic Variants

MYH14

305 papers

RefSeq Summary

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-de...

Pfam Domains

Myosin_Naa 51–96UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 107–788UCSCMyosin head (motor domain)

Myosin_tail_1aa 865–1945UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 14

HGNC Previous Symbol

DFNA4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001145809.2

p.V218L

c.652G>C

Surrounding Variants

5 papers

NM_001145809.2

p.A219A

c.657G>A

2 papers

NM_001145809.2

p.A216T

c.646G>A

1 paper

NM_001145809.2

p.S220S

c.660G>T

1 paper

NM_001145809.2

p.S221F

c.662C>T

1 paper

NM_001145809.2

p.Y214S

c.641A>C

1 paper

NM_001145809.2

p.I212N

c.635T>A

1 paper

NM_001145809.2

p.G224S

c.670G>A

1 paper

NM_001145809.2

p.G224D

c.671G>A

1 paper

NM_001145809.2

p.V211I

c.631G>A

1 paper

NM_001145809.2

p.R225R

c.675G>A

1 paper

NM_001145809.2

p.K226Q

c.676A>C

1 paper

NM_001145809.2

p.P228L

c.683C>T