Varaico: Literature-Extracted Genetic Variants

CHD2

529 papers

RefSeq Summary

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by mo...

Pfam Domains

Chromoaa 296–344UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 378–447UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 487–767UCSCSNF2-related domain

Helicase_Caa 791–905UCSCHelicase conserved C-terminal domain

CDH1_2_SANT_HL1aa 1129–1218UCSCCDH1/2 SANT-Helical linker 1

HTH_CHD1_Hrp3aa 1241–1324UCSCATP-dependent helicase CHD1-2/hrp3 HTH domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 2

HGNC Alias Symbols

FLJ38614; DKFZp547I1315; DKFZp781D1727; DKFZp686E01200

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001271.4

p.Y107C

c.320A>G

Surrounding Variants

1 paper

NM_001271.4

p.R110G

c.328A>G

1 paper

NM_001271.4

p.R111_S112insFs

c.333_334insG

1 paper

NM_001271.4

p.E102D

c.306A>T

5 papers

NM_001271.4

p.S112*

c.335C>A

6 papers

NM_001271.4

p.S112*

c.335C>G

2 papers

NM_001271.4

p.R114*

c.340C>T

1 paper

NM_001271.4

p.M99R

c.296T>G

1 paper

NM_001271.4

p.Q117*

c.349C>T

9 papers

NM_001271.4

p.R121*

c.361C>T

1 paper

NM_001271.4

p.R121Q

c.362G>A

1 paper

NM_001271.4

p.I124V

c.370A>G

1 paper

NM_001271.4

p.K125E

c.373A>G