Varaico: Literature-Extracted Genetic Variants

MYO18A

157 papers

RefSeq Summary

The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamella...

Pfam Domains

PDZaa 220–308UCSCPDZ domain

SH3_Myosin-XVIIIaaa 333–398UCSCUnconventional myosin-XVIIIa SH3 domain

SH3_Myosin-XVIIIaaa 345–410UCSCUnconventional myosin-XVIIIa SH3 domain

Myosin_headaa 407–1062UCSCMyosin head (motor domain)

Myosin_headaa 1081–1173UCSCMyosin head (motor domain)

Myosin_tail_1aa 1205–1859UCSCMyosin tail

Gene Aliases

HGNC Name

myosin XVIIIA

HGNC Previous Symbol

TIAF1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 201 variants

3 papers

NM_078471.4

p.G520S

c.1558G>A

3 papers

NM_078471.4

p.R555H

c.1664G>A

3 papers

NM_078471.4

p.A958V

c.2873C>T

2 papers

NM_078471.4

p.S94L

c.281C>T

2 papers

NM_078471.4

p.R138H

c.413G>A

2 papers

NM_078471.4

p.S493_L496delFs

c.1479_1488del10

2 papers

NM_078471.4

p.G520D

c.1559G>A

2 papers

NM_078471.4

p.R1000C

c.2998C>T

2 papers

NM_078471.4

p.R1059H

c.3176G>A

2 papers

NM_078471.4

p.P1130L

c.3389C>T

2 papers

NM_078471.4

p.E1271Q

c.3811G>C

2 papers

NM_078471.4

p.R1354W

c.4060C>T