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

1–12 of 193 variants

84 papers

NM_003978.5

p.A230T

c.688G>A

73 papers

NM_003978.5

p.E250Q

c.748G>C

62 papers

NM_003978.5

p.E250K

c.748G>A

31 papers

NM_003978.5

p.E277D

c.831G>T

30 papers

NM_003978.5

p.E257K

c.769G>A

27 papers

NM_003978.5

p.E277D

c.831G>C

23 papers

NM_003978.5

p.R405C

c.1213C>T

21 papers

NM_003978.5

p.G258A

c.773G>C

12 papers

NM_003978.5

p.G403R

c.1207G>C

11 papers

NM_003978.5

p.D246N

c.736G>A

11 papers

NM_003978.5

p.D266N

c.796G>A

11 papers

NM_003978.5

p.G403R

c.1207G>A