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.E410V

c.1229A>T

Surrounding Variants

1 paper

NM_001810.6

p.E412E

c.1236G>A

1 paper

NM_001810.6

p.E413K

c.1237G>A

1 paper

NM_001810.6

p.E413D

c.1239A>T

1 paper

NM_001810.6

p.E418E

c.1254A>G

1 paper

NM_001810.6

p.E421D

c.1263A>T

1 paper

NM_001810.6

p.E421D

c.1263A>C

1 paper

NM_001810.6

p.E421_G422del1

c.1262_1264delCTT

1 paper

NM_001810.6

p.E423D

c.1269G>T

1 paper

NM_001810.6

p.E423D

c.1269G>C

1 paper

NM_001810.6

p.E421_G422del2

c.1261_1265del6

1 paper

NM_001810.6

p.T396P

c.1186A>C

1 paper

NM_001810.6

p.E425E

c.1275G>A