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

1–12 of 414 variants

16 papers

NM_016343.4

p.N3106K

c.9318C>A

16 papers

NM_016343.4

p.N3106K

c.9318C>G

13 papers

NM_016343.4

p.R2943G

c.8827A>G

8 papers

NM_016343.4

p.E582*

c.1744G>T

8 papers

NM_016343.4

p.R2729Q

c.8186G>A

7 papers

NM_016343.4

p.H494Q

c.1482C>A

7 papers

NM_016343.4

p.H494Q

c.1482C>G

7 papers

NM_016343.4

p.M701V

c.2101A>G

7 papers

NM_016343.4

p.E912*

c.2734G>T

7 papers

NM_016343.4

p.A1515T

c.4543G>A

7 papers

NM_016343.4

p.T1974insFs

c.5920dupA

7 papers

NM_016343.4

p.N2396D

c.7186A>G