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.Y129delFs

c.387delC

Surrounding Variants

3 papers

NM_001145809.2

p.R128R

c.384G>C

1 paper

NM_001145809.2

p.Y130H

c.388T>C

1 paper

NM_001145809.2

p.Y130D

c.388T>G

1 paper

NM_001145809.2

p.Y130fs

c.388_389fs

1 paper

NM_001145809.2

p.E127G

c.380A>G

1 paper

NM_001145809.2

p.V121A

c.362T>C

10 papers

NM_001145809.2

p.S120L

c.359C>T

1 paper

NM_001145809.2

p.T114A

c.340A>G

1 paper

NM_001145809.2

p.E112K

c.334G>A

1 paper

NM_001145809.2

p.E108D

c.324G>C

1 paper

NM_001145809.2

p.E108D

c.324G>T

1 paper

NM_001145809.2

p.A107V

c.320C>T