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

1–12 of 113 variants

13 papers

NM_016556.4

p.E201del1

c.601_602delTTC

11 papers

NM_016556.4

p.Y163*

c.489C>G

10 papers

NM_016556.4

p.Y163*

c.489C>A

9 papers

NM_016556.4

p.E200_E201del1

c.600_602delTCC

7 papers

NM_016556.4

p.K63N

c.189G>T

7 papers

NM_016556.4

p.L144insFs

c.430_431insGA

7 papers

NM_016556.4

p.L144*

c.431T>A

7 papers

NM_016556.4

p.R166fs

c.496_497fs

6 papers

NM_016556.4

p.K63N

c.189G>C

6 papers

NM_016556.4

p.K69_I70del1

c.206_208delTCT

5 papers

NM_016556.4

p.E113Splc

c.338-15C>G

5 papers

NM_016556.4

p.F199_E200Splc

c.597+1G>T