Varaico: Literature-Extracted Genetic Variants

Gene:CALCOCO2
Variant:p.L81L

CALCOCO2

92 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroau...

Pfam Domains

SKICHaa 23–125UCSCSKICH domain
SKICHaa 23–125UCSCSKICH domain

Gene Aliases

HGNC Name

calcium binding and coiled-coil domain 2

HGNC Alias Symbols

MGC17318; NDP52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005831.5
p.L81L
c.241C>T
Surrounding Variants
1 paper
NM_005831.5
p.D80E
c.240C>A
1 paper
NM_005831.5
p.D80E
c.240C>G
1 paper
NM_005831.5
p.Y70F
c.209A>T
1 paper
NM_005831.5
p.Q124K
c.370C>A
1 paper
NM_005831.5
p.N129D
c.385A>G
1 paper
NM_005831.5
p.E130A
c.389A>C
1 paper
NM_005831.5
p.E131A
c.392A>C
1 paper
NM_005831.5
p.D132A
c.395A>C
1 paper
NM_005831.5
p.I133S
c.398T>G
1 paper
NM_005831.5
p.Q139*
c.415C>T
4 papers
NM_005831.5
p.G140E
c.419G>A
1 paper
NM_005831.5
p.E155K
c.463G>A
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