Varaico: Literature-Extracted Genetic Variants

Gene:INTS12
Variant:p.R48C

INTS12

37 papers

RefSeq Summary

INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear ...

Pfam Domains

PHDaa 162–212UCSCPHD-finger

Gene Aliases

HGNC Name

integrator complex subunit 12

HGNC Previous Symbol

PHF22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020395.4
p.R48C
c.142C>T
Surrounding Variants
1 paper
NM_020395.4
p.K52R
c.155A>G
1 paper
NM_020395.4
p.K52_D53Splc
c.156+1G>T
1 paper
NM_020395.4
p.L39V
c.115T>G
1 paper
NM_020395.4
p.K25K
c.75A>G
2 papers
NM_020395.4
p.L14fs
c.40_41fs
1 paper
NM_020395.4
p.L14delFs
c.41delA
1 paper
NM_020395.4
p.L14W
c.41T>G
1 paper
NM_020395.4
p.L14*
c.41T>A
1 paper
NM_020395.4
p.S61C
c.181A>T
1 paper
NM_020395.4
p.V132I
c.394G>A
1 paper
NM_020395.4
p.S135N
c.404G>A
1 paper
NM_020395.4
p.S135S
c.405C>T
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."