Varaico: Literature-Extracted Genetic Variants

CTDP1

126 papers

RefSeq Summary

This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates t...

Pfam Domains

BSH_Fcp1aa 18–113UCSCFcp1 barrel-sandwich hybrid domain

NIFaa 183–330UCSCNLI interacting factor-like phosphatase

BRCTaa 649–715UCSCBRCA1 C Terminus (BRCT) domain

FCP1_Caa 716–961UCSCFCP1, C-terminal

Gene Aliases

HGNC Name

CTD phosphatase subunit 1

HGNC Alias Symbol

FCP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 118 variants

19 papers

NM_004715.5

p.R288Splc

c.863+389C>T

4 papers

NM_004715.5

p.D939D

c.2817T>C

3 papers

NM_004715.5

p.T223M

c.668C>T

3 papers

NM_004715.5

p.T326T

c.978G>A

3 papers

NM_004715.5

p.T340M

c.1019C>T

3 papers

NM_004715.5

p.P487P

c.1461G>A

2 papers

NM_004715.5

p.S61A

c.181T>G

2 papers

NM_004715.5

p.A106V

c.317C>T

2 papers

NM_004715.5

p.R397H

c.1190G>A

2 papers

NM_004715.5

p.W407R

c.1219T>A

2 papers

NM_004715.5

p.W407R

c.1219T>C

2 papers

NM_004715.5

p.M576ins1

c.1727_1728insGGA