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

6 papers

NM_001145809.2

p.D191G

c.572A>G

Surrounding Variants

2 papers

NM_001145809.2

p.D191N

c.571G>A

2 papers

NM_001145809.2

p.D191H

c.571G>C

1 paper

NM_001145809.2

p.D191Y

c.571G>T

2 papers

NM_001145809.2

p.Q192H

c.576G>C

2 papers

NM_001145809.2

p.Q192H

c.576G>T

1 paper

NM_001145809.2

p.R189H

c.566G>A

1 paper

NM_001145809.2

p.R189C

c.565C>T

2 papers

NM_001145809.2

p.I194L

c.580A>C

1 paper

NM_001145809.2

p.L195V

c.583C>G

1 paper

NM_001145809.2

p.C196*

c.588C>A

1 paper

NM_001145809.2

p.E199A

c.596A>C

1 paper

NM_001145809.2

p.T205A

c.613A>G