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.Q2765_E2768del4

c.8293_8303del12

Surrounding Variants

1 paper

NM_016343.4

p.K2774_M2775Splc

c.8322+1G>T

8 papers

NM_016343.4

p.R2729Q

c.8186G>A

1 paper

NM_016343.4

p.Q2720_Y2721Splc

c.8161-1G>C

1 paper

NM_016343.4

p.K2719fs

c.8155_8156fs

1 paper

NM_016343.4

p.K2719delFs

c.8157delA

1 paper

NM_016343.4

p.Q2711*

c.8131C>T

1 paper

NM_016343.4

p.E2707*

c.8119G>T

1 paper

NM_016343.4

p.E2694fs

c.8080_8081fs

1 paper

NM_016343.4

p.K2688K

c.8064G>A

1 paper

NM_016343.4

p.L2797F

c.8391G>C

1 paper

NM_016343.4

p.L2797F

c.8391G>T

1 paper

NM_016343.4

p.G2829Splc

c.8485+3G>T