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.A36P

c.106G>C

Surrounding Variants

1 paper

NM_001145809.2

p.A36G

c.107C>G

2 papers

NM_001145809.2

p.G37S

c.109G>A

1 paper

NM_001145809.2

p.G37R

c.109G>C

2 papers

NM_001145809.2

p.R32C

c.94C>T

4 papers

NM_001145809.2

p.P31T

c.91C>A

1 paper

NM_001145809.2

p.T30insFs

c.89_90ins5

1 paper

NM_001145809.2

p.T30A

c.88A>G

1 paper

NM_001145809.2

p.S42P

c.124T>C

1 paper

NM_001145809.2

p.Q25E

c.73C>G

6 papers

NM_001145809.2

p.Q25*

c.73C>T

1 paper

NM_001145809.2

p.A24G

c.71C>G

1 paper

NM_001145809.2

p.Q47H

c.141G>C