Varaico: Literature-Extracted Genetic Variants

Gene:RPAP1
Variant:p.H939R

RPAP1

87 papers

RefSeq Summary

This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012].

Pfam Domains

RPAP1_Naa 225–270UCSCRPAP1-like, N-terminal
RPAP1_Caa 356–422UCSCRPAP1-like, C-terminal
TPR_RPAP1aa 1102–1324UCSCRNA polymerase II-associated protein 1, TPR repeats

Gene Aliases

HGNC Name

RNA polymerase II associated protein 1

HGNC Alias Symbols

DKFZP727M111; KIAA1403; MGC858; FLJ12732

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015540.4
p.H939R
c.2816A>G
Surrounding Variants
1 paper
NM_015540.4
p.F928L
c.2784C>G
1 paper
NM_015540.4
p.F928L
c.2784C>A
1 paper
NM_015540.4
p.F928L
c.2782T>C
1 paper
NM_015540.4
p.A916A
c.2748T>A
1 paper
NM_015540.4
p.H975R
c.2924A>G
1 paper
NM_015540.4
p.A976T
c.2926G>A
1 paper
NM_015540.4
p.L990P
c.2969T>C
1 paper
NM_015540.4
p.E995K
c.2983G>A
1 paper
NM_015540.4
p.H999Q
c.2997T>G
1 paper
NM_015540.4
p.H999Q
c.2997T>A
1 paper
NM_015540.4
p.P1013Splc
c.3038+1G>T
1 paper
NM_015540.4
p.Q914*
c.2740C>T
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