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.L424P

c.1271T>C

Surrounding Variants

1 paper

NM_001145809.2

p.L424R

c.1271T>G

1 paper

NM_001145809.2

p.F419S

c.1256T>C

1 paper

NM_024729.4

p.G423A

c.1268G>C

1 paper

NM_001145809.2

p.R432Q

c.1295G>A

5 papers

NM_001145809.2

p.Y434C

c.1301A>G

1 paper

NM_001145809.2

p.G413insFs

c.1238_1239insA

1 paper

NM_001145809.2

p.A438delFs

c.1314delC

1 paper

NM_001145809.2

p.R410H

c.1229G>A

1 paper

NM_001145809.2

p.C409Y

c.1226G>A

1 paper

NM_001145809.2

p.T440I

c.1319C>T

1 paper

NM_001145809.2

p.A444V

c.1331C>T

1 paper

NM_001145809.2

p.F446fs

c.1336_1337fs