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

2 papers

NM_001271.4

p.D617G

c.1850A>G

Surrounding Variants

1 paper

NM_001271.4

p.D617A

c.1850A>C

1 paper

NM_001271.4

p.E618A

c.1853A>C

1 paper

NM_001271.4

p.A619V

c.1856C>T

1 paper

NM_001271.4

p.G615R

c.1843G>A

1 paper

NM_001271.4

p.G615R

c.1843G>C

1 paper

NM_001271.4

p.H620R

c.1859A>G

2 papers

NM_001271.4

p.H620L

c.1859A>T

4 papers

NM_001271.4

p.R621W

c.1861C>T

1 paper

NM_001271.4

p.S627_L628delFs

c.1880_1883del4

1 paper

NM_001271.4

p.S627fs

c.1879_1880fs

1 paper

NM_001271.4

p.S627F

c.1880C>T

1 paper

NM_001271.4

p.G607D

c.1820G>A