Varaico: Literature-Extracted Genetic Variants

Gene:PSMC3IP
Variant:p.E113Splc

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
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.E113Splc
c.337+58G>A
Surrounding Variants
3 papers
NM_016556.4
p.E113Splc
c.337+47T>C
1 paper
NM_016556.4
p.E113Splc
c.337+33A>G
3 papers
NM_016556.4
p.E113Splc
c.337+32T>C
1 paper
NM_016556.4
p.E113Splc
c.337+86T>C
2 papers
NM_016556.4
p.E113Splc
c.337+19T>C
1 paper
NM_016556.4
p.E113Splc
c.337+16C>T
3 papers
NM_016556.4
p.E113Splc
c.337+13A>G
1 paper
NM_016556.4
p.E113Splc
c.337+9G>A
2 papers
NM_016556.4
p.E111delFs
c.333delC
1 paper
NM_001256014.2
p.E48E
c.144G>A
1 paper
NM_016556.4
p.M110I
c.330G>A
2 papers
NM_016556.4
p.R108H
c.323G>A
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