Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2B
Variant:p.K53N

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.K53N
c.159G>C
Surrounding Variants
1 paper
NM_001349008.3
p.E52_K53insFs
c.156_157insT
5 papers
NM_001349008.3
p.K64E
c.190A>G
1 paper
NM_001349008.3
p.Q112_R113Splc
c.336+1588C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."