Varaico: Literature-Extracted Genetic Variants

CBX1

36 papers

RefSeq Summary

This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The p...

Pfam Domains

Chromoaa 21–70UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromo_shadowaa 113–173UCSCChromo shadow domain

Gene Aliases

HGNC Name

chromobox 1

HGNC Alias Symbols

HP1Hs-beta; M31; MOD1; HP1-BETA; Hp1beta

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

1 paper

NM_001127228.2

p.M1_G2insFs

c.3_4insT

1 paper

NM_001127228.2

p.E11K

c.31G>A

1 paper

NM_001127228.2

p.E16K

c.46G>A

1 paper

NM_001127228.2

p.E19Q

c.55G>C

1 paper

NM_001127228.2

p.V23M

c.67G>A

1 paper

NM_001127228.2

p.V23Fs

c.68delinsATFs

1 paper

NM_001127228.2

p.V36del1

c.106_108delCAC

1 paper

NM_001127228.2

p.Y38*

c.114C>G

1 paper

NM_001127228.2

p.Y38*

c.114C>A

1 paper

NM_001127228.2

p.K35_L40del0

c.105_119del15

1 paper

NM_001127228.2

p.L39_K41delins

c.116_122delinsC

1 paper

NM_001127228.2

p.W42L

c.125G>T