Varaico: Literature-Extracted Genetic Variants

Gene:THOC2
Variant:p.L601L

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.L601L
c.1801T>C
Surrounding Variants
1 paper
NM_001081550.2
p.D610N
c.1828G>A
1 paper
NM_001081550.2
p.Y590S
c.1769A>C
1 paper
NM_001081550.2
p.Q588Q
c.1764G>A
1 paper
NM_001081550.2
p.E624A
c.1871A>C
1 paper
NM_001081550.2
p.Q567P
c.1700A>C
1 paper
NM_001081550.2
p.R555C
c.1663C>T
1 paper
NM_001081550.2
p.R555S
c.1663C>A
1 paper
NM_001081550.2
p.K554delFs
c.1662delC
1 paper
NM_001081550.2
p.R651C
c.1951C>T
1 paper
NM_001081550.2
p.P654T
c.1960C>A
1 paper
NM_001081550.2
p.A658S
c.1972G>T
1 paper
NM_001081550.2
p.G659S
c.1975G>A
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