Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2B
Variant:p.A1186S

CC2D2B

35 papers

Pfam Domains

DUF5523aa 18–267UCSCFamily of unknown function (DUF5523)
DUF5523aa 18–267UCSCFamily of unknown function (DUF5523)
CC2D2AN-C2aa 467–638UCSCCC2D2A N-terminal C2 domain
CEPT76_peptidaseaa 1166–1282UCSCCEP76 peptidase-like domain
CEP76_Caa 1306–1435UCSCCentrosomal protein of 76 kDa C-terminal domain

Gene Aliases

HGNC Name

coiled-coil and C2 domain containing 2B

HGNC Previous Symbols

C10orf130; C10orf131

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001349008.3
p.A1186S
c.3556G>T
Surrounding Variants
1 paper
NM_001349008.3
p.E1210A
c.3629A>C
1 paper
NM_001349008.3
p.V1213V
c.3639G>A
2 papers
NM_001159747.2
p.N64D
c.190A>G
1 paper
NM_001349008.3
p.C1094R
c.3280T>C
1 paper
NM_001349008.3
p.Q1088_I1089insFs
c.3264_3265insT
1 paper
NM_001349008.3
p.E982_D983Splc
c.2947-5C>A
2 papers
NM_001349008.3
p.R1316Splc
c.3947+1G>A
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