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

2 papers

NM_016343.4

p.T2013T

c.6039G>A

Surrounding Variants

4 papers

NM_016343.4

p.E2011A

c.6032A>C

1 paper

NM_016343.4

p.Q2017*

c.6049C>T

1 paper

NM_016343.4

p.S1993C

c.5978C>G

2 papers

NM_016343.4

p.S2044L

c.6131C>T

1 paper

NM_016343.4

p.A2046T

c.6136G>A

5 papers

NM_016343.4

p.D1978G

c.5933A>G

1 paper

NM_016343.4

p.T1974fs

c.5920_5921fs

6 papers

NM_016343.4

p.T1974fs

c.5920_5921fs

7 papers

NM_016343.4

p.T1974insFs

c.5920dupA

1 paper

NM_016343.4

p.S1971fs

c.5911_5912fs

1 paper

NM_016343.4

p.S1954S

c.5862A>G

1 paper

NM_016343.4

p.E1952*

c.5854G>T