Varaico: Literature-Extracted Genetic Variants

Gene:TSR2
Variant:p.M1V

TSR2

25 papers

RefSeq Summary

The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, O...

Pfam Domains

WGGaa 12–91UCSCPre-rRNA-processing protein TSR2

Gene Aliases

HGNC Name

TSR2 ribosome maturation factor

HGNC Alias Symbols

DT1P1A10; RP1-112K5.2; WGG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058163.3
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_058163.3
p.M1T
c.2T>C
1 paper
NM_058163.3
p.A8V
c.23C>T
1 paper
NM_058163.3
p.E31E
c.93G>A
1 paper
NM_058163.3
p.N57K
c.171T>A
1 paper
NM_058163.3
p.N57K
c.171T>G
4 papers
NM_058163.3
p.E64G
c.191A>G
2 papers
NM_058163.3
p.D78D
c.234T>C
1 paper
NM_058163.3
p.A106T
c.316G>A
1 paper
NM_058163.3
p.A106A
c.318T>C
1 paper
NM_058163.3
p.E147_V148Splc
c.442-2A>G
1 paper
NM_058163.3
p.P166T
c.496C>A
1 paper
NM_058163.3
p.E181K
c.541G>A
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