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

84 papers

NM_003978.5

p.A230T

c.688G>A

Surrounding Variants

11 papers

NM_003978.5

p.R228C

c.682C>T

NM_001321137.1

p.R293C

c.877C>T

1 paper

NM_003978.5

p.W232R

c.694T>C

1 paper

NM_003978.5

p.H234Y

c.700C>T

2 papers

NM_003978.5

p.H234Q

c.702C>A

2 papers

NM_003978.5

p.H234Q

c.702C>G

1 paper

NM_003978.5

p.T225P

c.673A>C

1 paper

NM_003978.5

p.L224R

c.671T>G

4 papers

NM_003978.5

p.N236K

c.708C>A

4 papers

NM_003978.5

p.N236K

c.708C>G

1 paper

NM_003978.5

p.Q237R

c.710A>G

1 paper

NM_003978.5

p.Q237_M240delins

c.710_719delinsGACATCGACA

1 paper

NM_003978.5

p.D222_R228delins

c.664_684delinsTCTACGAGGAAGTGCGGCTGA