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.K1443M

c.4328A>T

Surrounding Variants

1 paper

NM_016343.4

p.Q1424E

c.4270C>G

1 paper

NM_016343.4

p.E1470K

c.4408G>A

1 paper

NM_016343.4

p.E1417_Q1427del11

c.4249_4280del33

1 paper

NM_016343.4

p.G1471E

c.4412G>A

1 paper

NM_016343.4

p.P1474T

c.4420C>A

5 papers

NM_016343.4

p.L1412S

c.4235T>C

1 paper

NM_016343.4

p.E1406K

c.4216G>A

1 paper

NM_016343.4

p.V1481V

c.4443G>T

1 paper

NM_016343.4

p.V1400I

c.4198G>A

1 paper

NM_016343.4

p.L1487L

c.4461T>G

1 paper

NM_016343.4

p.T1394T

c.4182A>G

1 paper

NM_016343.4

p.S1493A

c.4477T>G