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

7 papers

NM_024729.4

p.G376C

c.1126G>T

NM_001145809.2

p.G384C

c.1150G>T

Surrounding Variants

1 paper

NM_024729.4

p.G376G

c.1128C>T

1 paper

NM_001145809.2

p.L381del1

c.1141_1142delCTC

2 papers

NM_024729.4

p.S370L

c.1109C>T

NM_001145809.2

p.S378L

c.1133C>T

1 paper

NM_001145809.2

p.K389N

c.1167G>C

1 paper

NM_001145809.2

p.K389N

c.1167G>T

1 paper

NM_001145809.2

p.S372Splc

c.1115-12T>A

1 paper

NM_001145809.2

p.C409Y

c.1226G>A

1 paper

NM_001145809.2

p.R410H

c.1229G>A

1 paper

NM_001145809.2

p.G413insFs

c.1238_1239insA

1 paper

NM_001145809.2

p.F419S

c.1256T>C

1 paper

NM_001145809.2

p.L424P

c.1271T>C

1 paper

NM_001145809.2

p.L424R

c.1271T>G