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.E1048G

c.3143A>G

Surrounding Variants

1 paper

NM_016343.4

p.L1057R

c.3170T>G

1 paper

NM_016343.4

p.L1039V

c.3115C>G

1 paper

NM_016343.4

p.E1037*

c.3109G>T

5 papers

NM_016343.4

p.G1033R

c.3097G>A

5 papers

NM_016343.4

p.G1033R

c.3097G>C

4 papers

NM_016343.4

p.Y1018D

c.3052T>G

1 paper

NM_016343.4

p.E1081K

c.3241G>A

1 paper

NM_016343.4

p.S1015P

c.3043T>C

1 paper

NM_016343.4

p.H1082Y

c.3244C>T

1 paper

NM_016343.4

p.S999R

c.2997T>A

1 paper

NM_016343.4

p.L1099delFs

c.3296delT

1 paper

NM_016343.4

p.L1099fs

c.3295_3296fs