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.E116delFs

c.347_348delTT

Surrounding Variants

1 paper

NM_016556.4

p.L117I

c.349T>A

1 paper

NM_016556.4

p.E116del1

c.346_347delTTC

1 paper

NM_013290.7

p.E113Splc

c.338-15C>G

1 paper

NM_016556.4

p.P124T

c.370C>A

5 papers

NM_016556.4

p.E113Splc

c.338-15C>G

1 paper

NM_016556.4

p.K128*

c.382A>T

1 paper

NM_016556.4

p.K134N

c.402G>T

1 paper

NM_016556.4

p.K134N

c.402G>C

1 paper

NM_016556.4

p.E136A

c.407A>C

1 paper

NM_016556.4

p.R141K

c.422G>A

1 paper

NM_016556.4

p.E142K

c.424G>A

7 papers

NM_016556.4

p.L144insFs

c.430_431insGA