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.E2977*

c.8929G>T

Surrounding Variants

1 paper

NM_016343.4

p.P2982Q

c.8945C>A

1 paper

NM_016343.4

p.T2971T

c.8913G>A

1 paper

NM_016343.4

p.T2971M

c.8912C>T

1 paper

NM_016343.4

p.G2988A

c.8963G>C

1 paper

NM_016343.4

p.G2988Splc

c.8962+2T>C

1 paper

NM_016343.4

p.I2965S

c.8894T>G

1 paper

NM_016343.4

p.S2963I

c.8888G>T

1 paper

NM_016343.4

p.T2949A

c.8845A>G

1 paper

NM_016343.4

p.P2947S

c.8839C>T

1 paper

NM_016343.4

p.T2946A

c.8836A>G

13 papers

NM_016343.4

p.R2943G

c.8827A>G

1 paper

NM_016343.4

p.I2938delFs

c.8812delA