Varaico: Literature-Extracted Genetic Variants

Gene:MYO16
Variant:p.G939R

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
2 papers
NM_001198950.3
p.G939R
c.2815G>C
Surrounding Variants
2 papers
NM_001198950.3
p.G939R
c.2815G>A
1 paper
NM_001198950.3
p.M956K
c.2867T>A
1 paper
NM_001198950.3
p.H966Y
c.2896C>T
1 paper
NM_001198950.3
p.L967F
c.2901G>C
1 paper
NM_001198950.3
p.L967F
c.2901G>T
1 paper
NM_001198950.3
p.K986T
c.2957A>C
1 paper
NM_001198950.3
p.H990_K991insG
c.2968_2972ins3
1 paper
NM_001198950.3
p.H990Q
c.2970T>A
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.K1009N
c.3027G>C
1 paper
NM_001198950.3
p.K1009N
c.3027G>T
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