Varaico: Literature-Extracted Genetic Variants

PSMC3IP

72 papers

RefSeq Summary

This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange ...

Pfam Domains

WHD_TBPIPaa 11–74UCSCTBPIP/Hop2 winged helix domain

LZ3wCHaa 154–211UCSCLeucine zipper with capping helix domain

Gene Aliases

HGNC Name

PSMC3 interacting protein

HGNC Alias Symbols

TBPIP; GT198; HUMGT198A; Hop2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016556.4

p.K67*

c.199A>T

Surrounding Variants

1 paper

NM_016556.4

p.Q68*

c.202C>T

1 paper

NM_016556.4

p.Y65*

c.195C>G

1 paper

NM_016556.4

p.Y65*

c.195C>A

1 paper

NM_016556.4

p.M64I

c.192G>T

1 paper

NM_016556.4

p.M64I

c.192G>C

1 paper

NM_016556.4

p.M64I

c.192G>A

6 papers

NM_016556.4

p.K69_I70del1

c.206_208delTCT

7 papers

NM_016556.4

p.K63N

c.189G>T

6 papers

NM_016556.4

p.K63N

c.189G>C

1 paper

NM_016556.4

p.F72S

c.215T>C

1 paper

NM_016556.4

p.Q53_K61delFs

c.157_182del26

1 paper

NM_016556.4

p.Q53fs

c.157_158fs