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

2 papers

NM_001145809.2

p.K589Q

c.1765A>C

NM_024729.4

p.K581Q

c.1741A>C

Surrounding Variants

1 paper

NM_024729.4

p.G577G

c.1731C>T

1 paper

NM_001145809.2

p.R592Q

c.1775G>A

1 paper

NM_001145809.2

p.P569Q

c.1706C>A

1 paper

NM_001145809.2

p.L562M

c.1684C>A

1 paper

NM_001145809.2

p.A560T

c.1678G>A

1 paper

NM_001145809.2

p.L558F

c.1672C>T

1 paper

NM_001145809.2

p.P555S

c.1663C>T

1 paper

NM_001145809.2

p.P552L

c.1655C>T

1 paper

NM_024729.4

p.R543Q

c.1628G>A

2 papers

NM_001145809.2

p.L542R

c.1625T>G

1 paper

NM_001145809.2

p.D537E

c.1611C>G

2 papers

NM_001145809.2

p.D537N

c.1609G>A

NM_024729.4

p.D529N

c.1585G>A