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.E1639D

c.4917A>T

Surrounding Variants

1 paper

NM_016343.4

p.E1639D

c.4917A>C

1 paper

NM_016343.4

p.R1642Q

c.4925G>A

1 paper

NM_016343.4

p.K1623N

c.4869G>C

1 paper

NM_016343.4

p.K1623N

c.4869G>T

1 paper

NM_016343.4

p.E1605*

c.4813G>T

1 paper

NM_016343.4

p.L1598H

c.4793T>A

1 paper

NM_016343.4

p.E1585K

c.4753G>A

1 paper

NM_016343.4

p.V1549F

c.4645G>T

1 paper

NM_016343.4

p.P1545Q

c.4634C>A

4 papers

NM_016343.4

p.K1539R

c.4616A>G

1 paper

NM_016343.4

p.C1521*

c.4563C>A

7 papers

NM_016343.4

p.A1515T

c.4543G>A