Varaico: Literature-Extracted Genetic Variants

Gene:INTS12
Variant:p.L442V

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
2 papers
NM_020395.4
p.L442V
c.1324C>G
Surrounding Variants
1 paper
NM_020395.4
p.P388H
c.1163C>A
1 paper
NM_020395.4
p.G372V
c.1115G>T
1 paper
NM_020395.4
p.T355del1
c.1063_1064delCGT
1 paper
NM_020395.4
p.T355M
c.1064C>T
1 paper
NM_020395.4
p.L310S
c.929T>C
1 paper
NM_020395.4
p.P305S
c.913C>T
1 paper
NM_020395.4
p.G289V
c.866G>T
1 paper
NM_020395.4
p.G275V
c.824G>T
1 paper
NM_020395.4
p.T251T
c.753T>A
1 paper
NM_020395.4
p.R218T
c.653G>C
1 paper
NM_020395.4
p.R214T
c.641G>C
1 paper
NM_020395.4
p.R188Q
c.563G>A
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