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

7 papers

NM_016556.4

p.R166fs

c.496_497fs

Surrounding Variants

1 paper

NM_016556.4

p.R166delFs

c.496_497delCT

1 paper

NM_001256014.2

p.Q104*

c.310C>T

11 papers

NM_016556.4

p.Y163*

c.489C>G

10 papers

NM_016556.4

p.Y163*

c.489C>A

1 paper

NM_016556.4

p.E172G

c.515A>G

1 paper

NM_001256014.2

p.W110*

c.329G>A

NM_013290.7

p.W161*

c.482G>A

NM_016556.4

p.W173*

c.518G>A

1 paper

NM_013290.7

p.W161*

c.483G>A

NM_016556.4

p.W173*

c.519G>A

NM_001256014.2

p.W110*

c.330G>A

1 paper

NM_001256014.2

p.R111fs

c.331_332fs

1 paper

NM_001256014.2

p.R111delFs

c.333delC

1 paper

NM_016556.4

p.M179_A180Splc

c.537+51G>C

2 papers

NM_016556.4

p.Q161_V162Splc

c.483+24G>A

1 paper

NM_016556.4

p.Q161Q

c.483G>A