Varaico: Literature-Extracted Genetic Variants

RPAP3

37 papers

RefSeq Summary

This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants hav...

Pfam Domains

TPR_1aa 133–166UCSCTetratricopeptide repeat

TPR_1aa 201–234UCSCTetratricopeptide repeat

TPR_16aa 286–353UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

RNA polymerase II associated protein 3

HGNC Alias Symbols

FLJ21908; hSpagh; Tah1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

2 papers

NM_024604.3

p.L53I

c.157T>A

2 papers

NM_024604.3

p.S632A

c.1894T>G

1 paper

NM_024604.3

p.N17S

c.50A>G

1 paper

NM_024604.3

p.P49R

c.146C>G

1 paper

NM_024604.3

p.R100C

c.298C>T

1 paper

NM_024604.3

p.K107*

c.319A>T

1 paper

NM_024604.3

p.D109E

c.327T>G

1 paper

NM_024604.3

p.D109E

c.327T>A

1 paper

NM_024604.3

p.K145Q

c.433A>C

1 paper

NM_024604.3

p.D150A

c.449A>C

1 paper

NM_024604.3

p.T157A

c.469A>G

1 paper

NM_024604.3

p.D161A

c.482A>C