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

9 papers

NM_016556.4

p.E200_E201del1

c.600_602delTCC

Surrounding Variants

13 papers

NM_016556.4

p.E201del1

c.601_602delTTC

1 paper

NM_016556.4

p.E205A

c.614A>C

2 papers

NM_016556.4

p.T206M

c.617C>T

1 paper

NM_016556.4

p.T206_E208del3

c.616_623del9

1 paper

NM_016556.4

p.D209A

c.626A>C

1 paper

NM_013290.7

p.V200_T201del1

c.600_602delGTG

1 paper

NM_016556.4

p.P217del1

c.649_650delGGG

1 paper

NM_016556.4

p.F199_E200Splc

c.597+2T>A

5 papers

NM_016556.4

p.F199_E200Splc

c.597+1G>T

1 paper

NM_016556.4

p.M179_A180Splc

c.537+51G>C

1 paper

NM_001256014.2

p.R111delFs

c.333delC

1 paper

NM_001256014.2

p.R111fs

c.331_332fs