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.R967R

c.2901G>A

Surrounding Variants

1 paper

NM_016343.4

p.R967K

c.2900G>A

1 paper

NM_016343.4

p.L964L

c.2890C>T

1 paper

NM_016343.4

p.Q974R

c.2921A>G

1 paper

NM_016343.4

p.L979delFs

c.2936_2937delTT

1 paper

NM_016343.4

p.L979fs

c.2935_2936fs

1 paper

NM_016343.4

p.E981K

c.2941G>A

1 paper

NM_016343.4

p.I982I

c.2946T>A

1 paper

NM_016343.4

p.N983K

c.2949T>A

1 paper

NM_016343.4

p.S985C

c.2954C>G

1 paper

NM_016343.4

p.E949K

c.2845G>A

1 paper

NM_016343.4

p.L941V

c.2821C>G

1 paper

NM_016343.4

p.S999R

c.2997T>A