Varaico: Literature-Extracted Genetic Variants

CIT

159 papers

RefSeq Summary

This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promot...

Pfam Domains

Pkinaseaa 97–360UCSCProtein kinase domain

Pkinase_Caa 379–421UCSCProtein kinase C terminal domain

PHaa 1444–1563UCSCPH domain

CNHaa 1601–1860UCSCCNH domain

Gene Aliases

HGNC Name

citron rho-interacting serine/threonine kinase

HGNC Alias Symbols

KIAA0949; STK21; CRIK; CITK

Papers

RefSeq ID

Protein change

DNA change

1–12 of 165 variants

5 papers

NM_001206999.2

p.M251_V252Splc

c.753+3A>T

5 papers

NM_001206999.2

p.S371Splc

c.1111+1G>A

3 papers

NM_001206999.2

p.N370S

c.1109A>G

3 papers

NM_001206999.2

p.K626E

c.1876A>G

2 papers

NM_001206999.2

p.N10fs

c.28_29fs

2 papers

NM_001206999.2

p.Y80H

c.238T>C

2 papers

NM_001206999.2

p.D230V

c.689A>T

2 papers

NM_001206999.2

p.S308C

c.923C>G

2 papers

NM_001206999.2

p.Q1122R

c.3365A>G

2 papers

NM_001206999.2

p.R1393W

c.4177C>T

2 papers

NM_001206999.2

p.R1398H

c.4193G>A

2 papers

NM_001206999.2

p.L1870V

c.5608T>G