Varaico: Literature-Extracted Genetic Variants

MYO16

119 papers

RefSeq Summary

This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest...

Pfam Domains

Ank_2aa 86–178UCSCAnkyrin repeats (3 copies)

Ank_2aa 222–307UCSCAnkyrin repeats (3 copies)

Myosin_headaa 425–1155UCSCMyosin head (motor domain)

NYAP_Naa 1243–1611UCSCNeuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

NYAP_Caa 1652–1858UCSCNeuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

Gene Aliases

HGNC Name

myosin XVI

HGNC Alias Symbols

MYR8; KIAA0865; Myo16b; NYAP3; PPP1R107

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001198950.3

p.R1407C

c.4219C>T

Surrounding Variants

2 papers

NM_001198950.3

p.A1404V

c.4211C>T

1 paper

NM_001198950.3

p.A1399V

c.4196C>T

1 paper

NM_001198950.3

p.R1392L

c.4175G>T

1 paper

NM_001198950.3

p.A1422V

c.4265C>T

1 paper

NM_001198950.3

p.P1423S

c.4267C>T

1 paper

NM_001198950.3

p.D1496delFs

c.4487delA

1 paper

NM_001198950.3

p.A1497delFs

c.4490delC

1 paper

NM_001198950.3

p.P1512P

c.4536G>A

1 paper

NM_001198950.3

p.K1539K

c.4617G>A

1 paper

NM_001198950.3

p.L1548L

c.4644C>T

1 paper

NM_001198950.3

p.P1554L

c.4661C>T

1 paper

NM_001198950.3

p.G1570G

c.4710C>T