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.P1192S

c.3574C>T

Surrounding Variants

1 paper

NM_016343.4

p.Q1193_L1196del4

c.3577_3587del12

2 papers

NM_016343.4

p.Y1206C

c.3617A>G

2 papers

NM_016343.4

p.A1208V

c.3623C>T

1 paper

NM_016343.4

p.Q1212*

c.3634C>T

1 paper

NM_016343.4

p.E1165Q

c.3493G>C

2 papers

NM_016343.4

p.E1145D

c.3435A>C

2 papers

NM_016343.4

p.E1145D

c.3435A>T

1 paper

NM_016343.4

p.M1253L

c.3757A>C

1 paper

NM_016343.4

p.M1253L

c.3757A>T

1 paper

NM_016343.4

p.M1253I

c.3759G>A

1 paper

NM_016343.4

p.M1253I

c.3759G>C

1 paper

NM_016343.4

p.M1253I

c.3759G>T