Varaico: Literature-Extracted Genetic Variants

Gene:BTBD18
Variant:p.P619H

BTBD18

30 papers

Pfam Domains

BTBaa 24–126UCSCBTB/POZ domain

Gene Aliases

HGNC Name

BTB domain containing 18

HGNC Previous Name

BTB (POZ) domain containing 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145101.3
p.P619H
c.1856C>A
Surrounding Variants
1 paper
NM_001145101.3
p.P628T
c.1882C>A
1 paper
NM_001145101.3
p.L638L
c.1914G>A
1 paper
NM_001145101.3
p.T598I
c.1793C>T
1 paper
NM_001145101.3
p.P545R
c.1634C>G
1 paper
NM_001145101.3
p.S513F
c.1538C>T
1 paper
NM_001145101.3
p.I511_S513delFs
c.1531_1537del7
1 paper
NM_001145101.3
p.I511fs
c.1531_1532fs
1 paper
NM_001145101.3
p.P510fs
c.1528_1529fs
1 paper
NM_001145101.3
p.P510insFs
c.1528_1529insT
1 paper
NM_001145101.3
p.Y467C
c.1400A>G
1 paper
NM_001145101.3
p.E465K
c.1393G>A
1 paper
NM_001145101.3
p.K378R
c.1133A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."