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.S372Splc

c.1114+2T>C

Surrounding Variants

1 paper

NM_001145809.2

p.S372Splc

c.1114+13C>T

1 paper

NM_001145809.2

p.F365L

c.1095C>A

1 paper

NM_001145809.2

p.F365L

c.1095C>G

1 paper

NM_001145809.2

p.F365F

c.1095C>T

1 paper

NM_001145809.2

p.F365L

c.1093T>C

1 paper

NM_001145809.2

p.S359S

c.1077G>T

3 papers

NM_001145809.2

p.T356M

c.1067C>T

NM_024729.4

p.T348M

c.1043C>T

1 paper

NM_001145809.2

p.F353Y

c.1058T>A

6 papers

NM_001145809.2

p.R350Q

c.1049G>A

NM_024729.4

p.R342Q

c.1025G>A

2 papers

NM_001145809.2

p.S345C

c.1034C>G

1 paper

NM_024729.4

p.A317Splc

c.949+13C>T

1 paper

NM_001145809.2

p.L323V

c.967C>G