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.V2387A

c.7160T>C

Surrounding Variants

7 papers

NM_016343.4

p.N2396D

c.7186A>G

1 paper

NM_016343.4

p.N2396Y

c.7186A>T

1 paper

NM_016343.4

p.L2397P

c.7190T>C

1 paper

NM_016343.4

p.A2371E

c.7112C>A

4 papers

NM_016343.4

p.R2407*

c.7219C>T

5 papers

NM_016343.4

p.A2356V

c.7067C>T

1 paper

NM_016343.4

p.A2356T

c.7066G>A

1 paper

NM_016343.4

p.I2421V

c.7261A>G

1 paper

NM_016343.4

p.N2351K

c.7053C>A

1 paper

NM_016343.4

p.N2351K

c.7053C>G

1 paper

NM_016343.4

p.K2429E

c.7285A>G

1 paper

NM_016343.4

p.G2336_N2340del0

c.7007_7018del12