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.Q928*

c.2782C>T

Surrounding Variants

3 papers

NM_001145809.2

p.R931H

c.2792G>A

1 paper

NM_001145809.2

p.L919L

c.2757G>C

1 paper

NM_001145809.2

p.Q937L

c.2810A>T

1 paper

NM_001145809.2

p.R939Q

c.2816G>A

1 paper

NM_001145809.2

p.A916T

c.2746G>A

1 paper

NM_001145809.2

p.V911V

c.2733G>C

1 paper

NM_001145809.2

p.D909V

c.2726A>T

2 papers

NM_001145809.2

p.T906M

c.2717C>T

NM_024729.4

p.T865M

c.2594C>T

1 paper

NM_001145809.2

p.Q942_L943Splc

c.2826+42T>G

1 paper

NM_001145809.2

p.Q942_L943Splc

c.2827-9A>C

1 paper

NM_001145809.2

p.A958delFs

c.2872delG

1 paper

NM_001145809.2

p.E965E

c.2895G>A