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.L55F

c.163C>T

Surrounding Variants

1 paper

NM_001145809.2

p.R54S

c.160C>A

1 paper

NM_001145809.2

p.V56delFs

c.167delT

1 paper

NM_001145809.2

p.W57insFs

c.171dupG

1 paper

NM_001145809.2

p.P59_G64delFs

c.176_191del16

1 paper

NM_001145809.2

p.E61K

c.181G>A

1 paper

NM_001145809.2

p.L62I

c.184C>A

1 paper

NM_001145809.2

p.Q47H

c.141G>C

1 paper

NM_001145809.2

p.L62L

c.186T>A

1 paper

NM_001145809.2

p.G64G

c.192G>T

1 paper

NM_001145809.2

p.S42P

c.124T>C

1 paper

NM_001145809.2

p.A69P

c.205G>C

1 paper

NM_001145809.2

p.A69E

c.206C>A