Varaico: Literature-Extracted Genetic Variants

RPRD1A

16 papers

RefSeq Summary

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative re...

Pfam Domains

CIDaa 7–125UCSCCID domain

CREPTaa 164–269UCSCCell-cycle alteration and expression-elevated protein in tumour

CREPTaa 164–310UCSCCell-cycle alteration and expression-elevated protein in tumour

Gene Aliases

HGNC Name

regulation of nuclear pre-mRNA domain containing 1A

HGNC Alias Symbols

P15RS; FLJ10656; HsT3101

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

1 paper

NM_018170.5

p.T42T

c.126C>T

1 paper

NM_018170.5

p.A51Splc

c.152-9209G>A

1 paper

NM_018170.5

p.A88fs

c.262_263fs

1 paper

NM_018170.5

p.S94Splc

c.282-2A>T

1 paper

NM_018170.5

p.E98*

c.292G>T

1 paper

NM_018170.5

p.C100F

c.299G>T

1 paper

NM_018170.5

p.D120G

c.359A>G

1 paper

NM_018170.5

p.Q142H

c.426G>T

1 paper

NM_018170.5

p.Q142H

c.426G>C

1 paper

NM_018170.5

p.I143M

c.429A>G

1 paper

NM_018170.5

p.A176V

c.527C>T

1 paper

NM_018170.5

p.S189A

c.565T>G