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

Selected Variant

1 paper

NM_024604.3

p.R300S

c.900A>T

Surrounding Variants

1 paper

NM_024604.3

p.R300S

c.900A>C

1 paper

NM_024604.3

p.E303Q

c.907G>C

1 paper

NM_024604.3

p.F292C

c.875T>G

1 paper

NM_024604.3

p.A310T

c.928G>A

1 paper

NM_024604.3

p.Q276_Q277delFs

c.828_831del4

1 paper

NM_024604.3

p.E269E

c.807G>A

1 paper

NM_024604.3

p.I244I

c.732C>T

1 paper

NM_024604.3

p.F235I

c.703T>A

1 paper

NM_024604.3

p.A195V

c.584C>T

1 paper

NM_024604.3

p.V185A

c.554T>C

1 paper

NM_024604.3

p.E336*

c.1006G>T

1 paper

NM_024604.3

p.K370_Q371delFs

c.1108_1111del4