Varaico: Literature-Extracted Genetic Variants

Gene:THOC2
Variant:p.P654T

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.P654T
c.1960C>A
Surrounding Variants
1 paper
NM_001081550.2
p.R651C
c.1951C>T
1 paper
NM_001081550.2
p.A658S
c.1972G>T
1 paper
NM_001081550.2
p.G659S
c.1975G>A
1 paper
NM_001081550.2
p.L660I
c.1978C>A
1 paper
NM_001081550.2
p.Q662R
c.1985A>G
2 papers
NM_001081550.2
p.N666D
c.1996A>G
1 paper
NM_001081550.2
p.E624A
c.1871A>C
1 paper
NM_001081550.2
p.Q684fs
c.2050_2051fs
1 paper
NM_001081550.2
p.M686fs
c.2056_2057fs
1 paper
NM_001081550.2
p.Q684insFs
c.2051_2052insA
2 papers
NM_001081550.2
p.T696I
c.2087C>T
1 paper
NM_001081550.2
p.D610N
c.1828G>A
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