Varaico: Literature-Extracted Genetic Variants

PSTPIP1

267 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organizati...

Pfam Domains

FCHaa 21–93UCSCFes/CIP4, and EFC/F-BAR homology domain

SH3_1aa 365–410UCSCSH3 domain

Gene Aliases

HGNC Name

proline-serine-threonine phosphatase interacting protein 1

HGNC Alias Symbols

CD2BP1L; CD2BP1; CD2BP1S; H-PIP; PAPAS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_003978.5

p.G403R

c.1207G>C

Surrounding Variants

11 papers

NM_003978.5

p.G403R

c.1207G>A

1 paper

NM_003978.5

p.N402K

c.1206C>G

2 papers

NM_003978.5

p.G403E

c.1208G>A

23 papers

NM_003978.5

p.R405C

c.1213C>T

1 paper

NM_003978.5

p.F407L

c.1219T>C

1 paper

NM_003978.5

p.F407L

c.1221C>A

1 paper

NM_003978.5

p.V408insFs

c.1222dupG

1 paper

NM_003978.5

p.F407L

c.1221C>G

3 papers

NM_003978.5

p.V408I

c.1222G>A

1 paper

NM_003978.5

p.V408L

c.1222G>C

1 paper

NM_003978.5

p.L390R

c.1169T>G

1 paper

NM_003978.5

p.L386L

c.1156C>T