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.T155R

c.464C>G

Surrounding Variants

1 paper

NM_001145809.2

p.I153M

c.459C>G

1 paper

NM_001145809.2

p.I158I

c.474T>C

4 papers

NM_001145809.2

p.V159M

c.475G>A

1 paper

NM_001145809.2

p.K149M

c.446A>T

2 papers

NM_001145809.2

p.R163Q

c.488G>A

1 paper

NM_001145809.2

p.P147fs

c.439_440fs

1 paper

NM_001145809.2

p.P147delFs

c.440delC

1 paper

NM_001145809.2

p.G164V

c.491G>T

1 paper

NM_001145809.2

p.I145delFs

c.434delT

1 paper

NM_001145809.2

p.V144F

c.430G>T

1 paper

NM_001145809.2

p.R167H

c.500G>A

3 papers

NM_001145809.2

p.E169K

c.505G>A