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.E648Q

c.1942G>C

Surrounding Variants

1 paper

NM_016343.4

p.H646N

c.1936C>A

1 paper

NM_016343.4

p.H646Y

c.1936C>T

1 paper

NM_016343.4

p.C650F

c.1949G>T

1 paper

NM_016343.4

p.K643*

c.1927A>T

1 paper

NM_016343.4

p.N662del1

c.1984_1985delAAC

1 paper

NM_016343.4

p.E663G

c.1988A>G

1 paper

NM_016343.4

p.W622*

c.1866G>A

1 paper

NM_016343.4

p.W622*

c.1865G>A

1 paper

NM_016343.4

p.S676N

c.2027G>A

1 paper

NM_016343.4

p.D687G

c.2060A>G

1 paper

NM_016343.4

p.K689M

c.2066A>T

1 paper

NM_016343.4

p.K606N

c.1818G>C