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

1–12 of 502 variants

10 papers

NM_001145809.2

p.S120L

c.359C>T

6 papers

NM_001145809.2

p.S7*

c.20C>A

6 papers

NM_001145809.2

p.Q25*

c.73C>T

6 papers

NM_001145809.2

p.D191G

c.572A>G

6 papers

NM_001145809.2

p.K898Q

c.2692A>C

5 papers

NM_001145809.2

p.A176T

c.526G>A

5 papers

NM_001145809.2

p.A181T

c.541G>A

5 papers

NM_001145809.2

p.A219A

c.657G>A

5 papers

NM_001145809.2

p.R350Q

c.1049G>A

5 papers

NM_001145809.2

p.G384C

c.1150G>T

5 papers

NM_001145809.2

p.Y434C

c.1301A>G

5 papers

NM_001077186.2

p.R941L

c.2822G>T