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.E542V

c.1625A>T

Surrounding Variants

1 paper

NM_016343.4

p.E542K

c.1624G>A

1 paper

NM_016343.4

p.N549T

c.1646A>C

1 paper

NM_016343.4

p.L574F

c.1722G>C

1 paper

NM_016343.4

p.L574F

c.1722G>T

8 papers

NM_016343.4

p.E582*

c.1744G>T

1 paper

NM_016343.4

p.K606N

c.1818G>C

1 paper

NM_016343.4

p.K606N

c.1818G>T

1 paper

NM_016343.4

p.W622*

c.1865G>A

1 paper

NM_016343.4

p.W622*

c.1866G>A

1 paper

NM_016343.4

p.K643*

c.1927A>T

1 paper

NM_016343.4

p.H646N

c.1936C>A

1 paper

NM_016343.4

p.H646Y

c.1936C>T