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.F1060insFs

c.3179_3180dupTC

Surrounding Variants

1 paper

NM_001198950.3

p.T1057_P1058insFs

c.3171_3172dupTC

1 paper

NM_001198950.3

p.T1057A

c.3169A>G

1 paper

NM_001198950.3

p.Q1085K

c.3253C>A

1 paper

NM_001198950.3

p.G1099*

c.3295G>T

1 paper

NM_001198950.3

p.D1034N

c.3100G>A

1 paper

NM_001198950.3

p.K1009N

c.3027G>C

1 paper

NM_001198950.3

p.K1009N

c.3027G>T

1 paper

NM_001198950.3

p.K998N

c.2994A>C

1 paper

NM_001198950.3

p.K998N

c.2994A>T

1 paper

NM_001198950.3

p.H990Q

c.2970T>A

1 paper

NM_001198950.3

p.H990_K991insG

c.2968_2972ins3

1 paper

NM_001198950.3

p.K986T

c.2957A>C