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.R1879G

c.5635C>G

Surrounding Variants

2 papers

NM_016343.4

p.R1879C

c.5635C>T

2 papers

NM_016343.4

p.G1865V

c.5594G>T

2 papers

NM_016343.4

p.S1905_R1906insFs

c.5715_5718dup4

1 paper

NM_016343.4

p.I1907fs

c.5719_5720fs

1 paper

NM_016343.4

p.E1915D

c.5745G>C

1 paper

NM_016343.4

p.E1915D

c.5745G>T

1 paper

NM_016343.4

p.Y1920C

c.5759A>G

1 paper

NM_016343.4

p.T1820S

c.5459C>G

1 paper

NM_016343.4

p.T1820I

c.5459C>T

1 paper

NM_016343.4

p.T1820S

c.5458A>T

3 papers

NM_016343.4

p.D1938E

c.5814C>A

3 papers

NM_016343.4

p.D1938E

c.5814C>G