Varaico: Literature-Extracted Genetic Variants

Gene:RPAP1
Variant:p.W1300*

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.W1300*
c.3899G>A
Surrounding Variants
1 paper
NM_015540.4
p.W1300*
c.3900G>A
2 papers
NM_015540.4
p.R1297H
c.3890G>A
1 paper
NM_015540.4
p.Y1287*
c.3861C>G
1 paper
NM_015540.4
p.Y1287*
c.3861C>A
1 paper
NM_015540.4
p.S1314N
c.3941G>A
1 paper
NM_015540.4
p.F1315I
c.3943T>A
1 paper
NM_015540.4
p.P1277L
c.3830C>T
1 paper
NM_015540.4
p.K1337E
c.4009A>G
1 paper
NM_015540.4
p.H1349H
c.4047C>T
1 paper
NM_015540.4
p.P1361S
c.4081C>T
1 paper
NM_015540.4
p.P1371R
c.4112C>G
1 paper
NM_015540.4
p.S1222F
c.3665C>T
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