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.E965E

c.2895G>A

Surrounding Variants

1 paper

NM_001145809.2

p.A958delFs

c.2872delG

2 papers

NM_001145809.2

p.R974H

c.2921G>A

NM_024729.4

p.R933H

c.2798G>A

8 papers

NM_001077186.2

p.R941L

c.2822G>T

NM_001145809.2

p.R974L

c.2921G>T

NM_024729.4

p.R933L

c.2798G>T

1 paper

NM_001145809.2

p.Q976*

c.2926C>T

1 paper

NM_001145809.2

p.E977fs

c.2929_2930fs

2 papers

NM_001145809.2

p.E991K

c.2971G>A

NM_024729.4

p.E950K

c.2848G>A

1 paper

NM_001145809.2

p.Q942_L943Splc

c.2827-9A>C

2 papers

NM_001145809.2

p.L1006L

c.3018G>A

1 paper

NM_001077186.2

p.H976Y

c.2926C>T

1 paper

NM_001145809.2

p.Q1011_E1012Splc

c.3033+11T>C

1 paper

NM_001145809.2

p.Q942_L943Splc

c.2826+42T>G

1 paper

NM_001145809.2

p.R939Q

c.2816G>A