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.A98T

c.292G>A

Surrounding Variants

1 paper

NM_016556.4

p.V100M

c.298G>A

1 paper

NM_016556.4

p.V100delFs

c.299_300delCA

1 paper

NM_016556.4

p.Q101R

c.302A>G

1 paper

NM_016556.4

p.V100_Q101delFs

c.298_301del4

1 paper

NM_016556.4

p.S102R

c.304A>C

1 paper

NM_016556.4

p.S102R

c.306C>G

1 paper

NM_016556.4

p.S102R

c.306C>A

3 papers

NM_016556.4

p.Q104*

c.310C>T

1 paper

NM_016556.4

p.K92E

c.274A>G

4 papers

NM_016556.4

p.D90H

c.268G>C

1 paper

NM_016556.4

p.R108C

c.322C>T

2 papers

NM_016556.4

p.R108H

c.323G>A