Varaico: Literature-Extracted Genetic Variants

Gene:THOC2
Variant:p.E462K

THOC2

109 papers

RefSeq Summary

The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded ...

Pfam Domains

THOC2_Naa 8–426UCSCTHO complex subunit 2 N-terminus
THOC2_Naa 415–566UCSCTHO complex subunit 2 N-terminus
Thoc2aa 568–643UCSCTranscription- and export-related complex subunit
Tho2aa 873–1173UCSCTranscription factor/nuclear export subunit protein 2

Gene Aliases

HGNC Name

THO complex subunit 2

HGNC Previous Symbols

MRX12; MRX35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001081550.2
p.E462K
c.1384G>A
Surrounding Variants
5 papers
NM_001081550.2
p.L438P
c.1313T>C
3 papers
NM_001081550.2
p.A421T
c.1261G>A
1 paper
NM_001081550.2
p.P418T
c.1252C>A
1 paper
NM_001081550.2
p.L394F
c.1180C>T
1 paper
NM_001081550.2
p.A382T
c.1144G>A
1 paper
NM_001081550.2
p.A373V
c.1118C>T
1 paper
NM_001081550.2
p.P370L
c.1109C>T
1 paper
NM_001081550.2
p.L353L
c.1059A>G
1 paper
NM_001081550.2
p.R326Q
c.977G>A
1 paper
NM_001081550.2
p.L318*
c.953T>A
4 papers
NM_001081550.2
p.L313F
c.937C>T
1 paper
NM_001081550.2
p.C294F
c.881G>T
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