Varaico: Literature-Extracted Genetic Variants

Gene:BTBD19
Variant:p.V248A

BTBD19

30 papers

Pfam Domains

BTBaa 19–128UCSCBTB/POZ domain
BACKaa 133–238UCSCBTB And C-terminal Kelch

Gene Aliases

HGNC Name

BTB domain containing 19

HGNC Previous Name

BTB (POZ) domain containing 19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001136537.3
p.V248A
c.743T>C
Surrounding Variants
1 paper
NM_001136537.3
p.L286P
c.857T>C
1 paper
NM_001136537.3
p.E238K
c.712G>A
1 paper
NM_001136537.3
p.R210ins15
c.629_630ins45
1 paper
NM_001136537.3
p.A205V
c.614C>T
1 paper
NM_001136537.3
p.A201V
c.602C>T
1 paper
NM_001136537.3
p.W200S
c.599G>C
1 paper
NM_001136537.3
p.R198*
c.592C>T
1 paper
NM_001136537.3
p.A196delFs
c.588delG
2 papers
NM_001136537.3
p.V141I
c.421G>A
1 paper
NM_001136537.3
p.V133F
c.397G>T
1 paper
NM_001136537.3
p.E118*
c.352G>T
1 paper
NM_001136537.3
p.V109L
c.325G>C
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."