Varaico: Literature-Extracted Genetic Variants

CENPF

295 papers

RefSeq Summary

This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associat...

Pfam Domains

CENP-F_Naa 1–307UCSCCenp-F N-terminal domain

CENP-F_leu_zipaa 1893–2035UCSCLeucine-rich repeats of kinetochore protein Cenp-F/LEK1

CENP-F_leu_zipaa 2131–2270UCSCLeucine-rich repeats of kinetochore protein Cenp-F/LEK1

CENP-F_leu_zipaa 2313–2452UCSCLeucine-rich repeats of kinetochore protein Cenp-F/LEK1

CENP-F_C_Rb_bdgaa 2967–3013UCSCRb-binding domain of kinetochore protein Cenp-F/LEK1

Gene Aliases

HGNC Name

centromere protein F

HGNC Alias Symbol

hcp-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016343.4

p.L849V

c.2545C>G

Surrounding Variants

1 paper

NM_016343.4

p.E865D

c.2595A>C

1 paper

NM_016343.4

p.S876R

c.2626A>C

1 paper

NM_016343.4

p.S821N

c.2462G>A

1 paper

NM_016343.4

p.S876R

c.2628T>A

1 paper

NM_016343.4

p.S876R

c.2628T>G

5 papers

NM_016343.4

p.R815H

c.2444G>A

2 papers

NM_016343.4

p.R815P

c.2444G>C

1 paper

NM_016343.4

p.I885delFs

c.2654delT

1 paper

NM_016343.4

p.M807L

c.2419A>C

1 paper

NM_016343.4

p.M807L

c.2419A>T

1 paper

NM_016343.4

p.S806N

c.2417G>A

1 paper

NM_016343.4

p.I801N

c.2402T>A