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

Selected Variant

1 paper

NM_004715.5

p.S395L

c.1184C>T

Surrounding Variants

1 paper

NM_004715.5

p.R397C

c.1189C>T

2 papers

NM_004715.5

p.R397H

c.1190G>A

1 paper

NM_004715.5

p.K400Q

c.1198A>C

1 paper

NM_004715.5

p.A389V

c.1166C>T

1 paper

NM_004715.5

p.E403Q

c.1207G>C

2 papers

NM_004715.5

p.W407R

c.1219T>A

2 papers

NM_004715.5

p.W407R

c.1219T>C

1 paper

NM_004715.5

p.K379Q

c.1135A>C

1 paper

NM_004715.5

p.Q411H

c.1233G>C

1 paper

NM_004715.5

p.Q411H

c.1233G>T

1 paper

NM_004715.5

p.A412S

c.1234G>T

1 paper

NM_004715.5

p.E378A

c.1133A>C