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.K2591T

c.7772A>C

Surrounding Variants

1 paper

NM_016343.4

p.Y2590*

c.7770C>A

1 paper

NM_016343.4

p.Y2590*

c.7770C>G

1 paper

NM_016343.4

p.D2603E

c.7809C>A

1 paper

NM_016343.4

p.D2603E

c.7809C>G

1 paper

NM_016343.4

p.S2606P

c.7816T>C

1 paper

NM_016343.4

p.S2574F

c.7721C>T

1 paper

NM_016343.4

p.K2610_V2611Splc

c.7830+8G>T

1 paper

NM_016343.4

p.E2553K

c.7657G>A

1 paper

NM_016343.4

p.E2547*

c.7639G>T

1 paper

NM_016343.4

p.S2539C

c.7616C>G

1 paper

NM_016343.4

p.L2537L

c.7611T>C

1 paper

NM_016343.4

p.Q2530fs

c.7588_7589fs