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.F10I

c.28T>A

Surrounding Variants

2 papers

NM_001810.6

p.M1_T9del9

c.1_26del27

2 papers

NM_001810.6

p.M1_P3del0

c.1_9del9

1 paper

NM_001810.6

p.N36S

c.107A>G

1 paper

NM_001810.6

p.S43N

c.128G>A

1 paper

NM_001810.6

p.T44T

c.132G>T

1 paper

NM_001810.6

p.K58M

c.173A>T

1 paper

NM_001810.6

p.P73S

c.217C>T

2 papers

NM_001810.6

p.P73L

c.218C>T

1 paper

NM_001810.6

p.E109K

c.325G>A

1 paper

NM_001810.6

p.V138A

c.413T>C

1 paper

NM_001810.6

p.A141delFs

c.421_422delGC

1 paper

NM_001810.6

p.N145delFs

c.434_435delGT