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

3 papers

NM_016343.4

p.N1703S

c.5108A>G

Surrounding Variants

1 paper

NM_016343.4

p.E1707insFs

c.5119dupG

2 papers

NM_016343.4

p.K1708T

c.5123A>C

1 paper

NM_016343.4

p.Q1725*

c.5173C>T

1 paper

NM_016343.4

p.D1672Y

c.5014G>T

2 papers

NM_016343.4

p.R1667*

c.4999C>T

1 paper

NM_016343.4

p.S1747_E1748delFs

c.5240_5244del5

1 paper

NM_016343.4

p.E1748*

c.5242G>T

1 paper

NM_016343.4

p.N1765Y

c.5293A>T

4 papers

NM_016343.4

p.D1768N

c.5302G>A

4 papers

NM_016343.4

p.H1770Q

c.5310T>A

4 papers

NM_016343.4

p.H1770Q

c.5310T>G

1 paper

NM_016343.4

p.E1778_T1779delFs

c.5334_5335delGA