Varaico: Literature-Extracted Genetic Variants

STRIP1

50 papers

RefSeq Summary

This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organizatio...

Pfam Domains

N1221aa 66–337UCSCN1221-like protein

DUF3402aa 424–639UCSCDomain of unknown function (DUF3402)

DUF3402aa 626–817UCSCDomain of unknown function (DUF3402)

Gene Aliases

HGNC Name

striatin interacting protein 1

HGNC Previous Symbol

FAM40A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033088.4

p.E134K

c.400G>A

Surrounding Variants

1 paper

NM_033088.4

p.R146L

c.437G>T

1 paper

NM_033088.4

p.S161L

c.482C>T

1 paper

NM_033088.4

p.A163V

c.488C>T

1 paper

NM_033088.4

p.A184delFs

c.551delC

1 paper

NM_033088.4

p.S200N

c.599G>A

1 paper

NM_033088.4

p.R217W

c.649A>T

1 paper

NM_033088.4

p.Y224delFs

c.671delA

1 paper

NM_033088.4

p.R245W

c.733C>T

1 paper

NM_033088.4

p.T247I

c.740C>T

1 paper

NM_033088.4

p.F267S

c.800T>C

1 paper

NM_033088.4

p.H277H

c.831C>T

1 paper

NM_033088.4

p.P279delFs

c.836delC