Varaico: Literature-Extracted Genetic Variants

Gene:STRIP1
Variant:p.P279delFs

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.P279delFs
c.836delC
Surrounding Variants
1 paper
NM_033088.4
p.H277H
c.831C>T
1 paper
NM_033088.4
p.P279fs
c.835_836fs
1 paper
NM_033088.4
p.K284N
c.852G>C
1 paper
NM_033088.4
p.K284N
c.852G>T
1 paper
NM_033088.4
p.L287P
c.860T>C
1 paper
NM_033088.4
p.F267S
c.800T>C
1 paper
NM_033088.4
p.L290P
c.869T>C
1 paper
NM_033088.4
p.T247I
c.740C>T
1 paper
NM_033088.4
p.R245W
c.733C>T
1 paper
NM_033088.4
p.Y224delFs
c.671delA
1 paper
NM_033088.4
p.R217W
c.649A>T
1 paper
NM_033088.4
p.S200N
c.599G>A
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