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.A444V

c.1331C>T

Surrounding Variants

1 paper

NM_001145809.2

p.F446fs

c.1336_1337fs

1 paper

NM_001145809.2

p.A447V

c.1340C>T

1 paper

NM_001145809.2

p.A450A

c.1350C>G

2 papers

NM_001145809.2

p.A454T

c.1360G>A

NM_024729.4

p.A446T

c.1336G>A

1 paper

NM_001145809.2

p.R461H

c.1382G>A

2 papers

NM_024729.4

p.W454G

c.1360T>G

NM_001145809.2

p.W462G

c.1384T>G

1 paper

NM_001145809.2

p.R473C

c.1417C>T

3 papers

NM_001145809.2

p.R476H

c.1427G>A

NM_024729.4

p.R468H

c.1403G>A

1 paper

NM_001145809.2

p.Q500_L501ins6

c.1500_1501ins18

1 paper

NM_001145809.2

p.L501insFs

c.1501_1502ins4

1 paper

NM_001145809.2

p.L501L

c.1503C>A

1 paper

NM_024729.4

p.L502L

c.1506G>A