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.E2259*

c.6775G>T

Surrounding Variants

1 paper

NM_016343.4

p.E2259G

c.6776A>G

1 paper

NM_016343.4

p.Q2262*

c.6784C>T

1 paper

NM_016343.4

p.Q2262R

c.6785A>G

1 paper

NM_016343.4

p.E2253fs

c.6757_6758fs

2 papers

NM_016343.4

p.E2253delFs

c.6757delG

1 paper

NM_016343.4

p.E2252*

c.6754G>T

1 paper

NM_016343.4

p.A2271insFs

c.6812_6813insT

1 paper

NM_016343.4

p.A2246S

c.6736G>T

1 paper

NM_016343.4

p.K2243delins

c.6727delinsAACC

1 paper

NM_016343.4

p.M2282V

c.6844A>G

1 paper

NM_016343.4

p.E2286*

c.6856G>T

1 paper

NM_016343.4

p.L2229_L2232delins

c.6687_6695delinsTTTAAATGA