Varaico: Literature-Extracted Genetic Variants

Gene:BCORL1
Variant:p.P250L

BCORL1

643 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II h...

Pfam Domains

Ank_2aa 1500–1593UCSCAnkyrin repeats (3 copies)
Ank_2aa 1500–1593UCSCAnkyrin repeats (3 copies)
PUFDaa 1667–1784UCSCBCORL-PCGF1-binding domain

Gene Aliases

HGNC Name

BCL6 corepressor like 1

HGNC Previous Symbol

CXorf10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001379451.1
p.P250L
c.749C>T
Surrounding Variants
1 paper
NM_001379451.1
p.S249C
c.746C>G
1 paper
NM_001379451.1
p.S249_P250del1
c.746_748delCCC
1 paper
NM_001379451.1
p.P254fs
c.760_761fs
1 paper
NM_001379451.1
p.P246T
c.736C>A
1 paper
NM_001379451.1
p.V245I
c.733G>A
1 paper
NM_001379451.1
p.P256L
c.767C>T
1 paper
NM_001379451.1
p.A257V
c.770C>T
2 papers
NM_001379451.1
p.A242S
c.724G>T
1 paper
NM_001379451.1
p.P260R
c.779C>G
2 papers
NM_001379451.1
p.A261V
c.782C>T
1 paper
NM_001379451.1
p.A261A
c.783G>A
1 paper
NM_001379451.1
p.V239fs
c.715_716fs
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