Varaico: Literature-Extracted Genetic Variants

CENPB

57 papers

RefSeq Summary

This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a he...

Pfam Domains

CENP-B_Naa 2–56UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 74–136UCSCTc5 transposase DNA-binding domain

DDE_1aa 222–384UCSCDDE superfamily endonuclease

CENP-B_dimerisaa 499–598UCSCCentromere protein B dimerisation domain

Gene Aliases

HGNC Name

centromere protein B

HGNC Previous Names

centromere protein B (80kD); centromere protein B, 80kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001810.6

p.E438D

c.1314A>T

Surrounding Variants

1 paper

NM_001810.6

p.E438D

c.1314A>C

2 papers

NM_001810.6

p.E438K

c.1312G>A

1 paper

NM_001810.6

p.E434_E435del2

c.1300_1304del6

1 paper

NM_001810.6

p.E434_E435del1

c.1302_1304delTCC

1 paper

NM_001810.6

p.L442W

c.1325T>G

1 paper

NM_001810.6

p.E434D

c.1302G>T

1 paper

NM_001810.6

p.E445D

c.1335A>T

1 paper

NM_001810.6

p.E445D

c.1335A>C

1 paper

NM_001810.6

p.E446K

c.1336G>A

1 paper

NM_001810.6

p.G429G

c.1287G>T

1 paper

NM_001810.6

p.G429E

c.1286G>A

1 paper

NM_001810.6

p.V448A

c.1343T>C