Varaico: Literature-Extracted Genetic Variants

Gene:BCORL1
Variant:p.Q606H

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
1 paper
NM_001379451.1
p.Q606H
c.1818G>T
Surrounding Variants
1 paper
NM_001379451.1
p.Q606H
c.1818G>C
3 papers
NM_001379451.1
p.Q606*
c.1816C>T
1 paper
NM_001379451.1
p.E608insFs
c.1824dupA
1 paper
NM_001379451.1
p.P605delFs
c.1814_1815delCA
6 papers
NM_001379451.1
p.R609*
c.1825C>T
1 paper
NM_001379451.1
p.R609fs
c.1825_1826fs
1 paper
NM_001379451.1
p.E610K
c.1828G>A
1 paper
NM_001379451.1
p.M611T
c.1832T>C
1 paper
NM_001379451.1
p.A612T
c.1834G>A
1 paper
NM_001379451.1
p.A612insFs
c.1834_1835insTC
1 paper
NM_001379451.1
p.L601fs
c.1801_1802fs
1 paper
NM_001379451.1
p.L601insFs
c.1802dupT
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