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.K886E

c.2656A>G

Surrounding Variants

1 paper

NM_001145809.2

p.L887insFs

c.2660_2661insC

1 paper

NM_001145809.2

p.A883D

c.2648C>A

1 paper

NM_001145809.2

p.A882V

c.2645C>T

1 paper

NM_001145809.2

p.W890insFs

c.2670dupG

2 papers

NM_001145809.2

p.R879Q

c.2636G>A

2 papers

NM_001145809.2

p.L874P

c.2621T>C

NM_024729.4

p.L833P

c.2498T>C

7 papers

NM_001145809.2

p.K898Q

c.2692A>C

NM_024729.4

p.K857Q

c.2569A>C

1 paper

NM_001145809.2

p.K898E

c.2692A>G

1 paper

NM_024729.4

p.A832V

c.2495C>T

2 papers

NM_001145809.2

p.R867H

c.2600G>A

2 papers

NM_001145809.2

p.R867C

c.2599C>T

1 paper

NM_001145809.2

p.R862Splc

c.2586-1G>A