Varaico: Literature-Extracted Genetic Variants

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

1–12 of 97 variants

3 papers

NM_015540.4

p.S19R

c.55A>C

3 papers

NM_015540.4

p.S19R

c.57T>G

3 papers

NM_015540.4

p.S19R

c.57T>A

2 papers

NM_015540.4

p.K34M

c.101A>T

2 papers

NM_015540.4

p.P49L

c.146C>T

2 papers

NM_015540.4

p.N61Splc

c.182-1G>T

2 papers

NM_015540.4

p.A157V

c.470C>T

2 papers

NM_015540.4

p.R549C

c.1645C>T

2 papers

NM_015540.4

p.T555T

c.1665A>C

2 papers

NM_015540.4

p.R582G

c.1744A>G

2 papers

NM_015540.4

p.D1100N

c.3298G>A

2 papers

NM_015540.4

p.R1297H

c.3890G>A