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

2 papers

NM_003978.5

p.E257G

c.770A>G

Surrounding Variants

30 papers

NM_003978.5

p.E257K

c.769G>A

21 papers

NM_003978.5

p.G258A

c.773G>C

1 paper

NM_003978.5

p.L256P

c.767T>C

1 paper

NM_003978.5

p.L256M

c.766C>A

4 papers

NM_003978.5

p.T255M

c.764C>T

1 paper

NM_003978.5

p.C259W

c.777C>G

1 paper

NM_003978.5

p.D264N

c.790G>A

1 paper

NM_003978.5

p.E250A

c.749A>C

62 papers

NM_003978.5

p.E250K

c.748G>A

73 papers

NM_003978.5

p.E250Q

c.748G>C

1 paper

NM_003978.5

p.E250fs

c.748_749fs

1 paper

NM_003978.5

p.E250delFs

c.748delG