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_024729.4

p.L502L

c.1506G>A

Surrounding Variants

1 paper

NM_001145809.2

p.Q511*

c.1531C>T

1 paper

NM_001145809.2

p.L501L

c.1503C>A

1 paper

NM_001145809.2

p.L501insFs

c.1501_1502ins4

1 paper

NM_001145809.2

p.Q500_L501ins6

c.1500_1501ins18

1 paper

NM_001145809.2

p.E525_Y526del2

c.1573_1577del6

1 paper

NM_001145809.2

p.L536F

c.1606C>T

2 papers

NM_001145809.2

p.D537N

c.1609G>A

NM_024729.4

p.D529N

c.1585G>A

1 paper

NM_001145809.2

p.D537E

c.1611C>G

2 papers

NM_001145809.2

p.L542R

c.1625T>G

1 paper

NM_024729.4

p.R543Q

c.1628G>A

1 paper

NM_001145809.2

p.P552L

c.1655C>T

3 papers

NM_001145809.2

p.R476H

c.1427G>A

NM_024729.4

p.R468H

c.1403G>A