Varaico: Literature-Extracted Genetic Variants

Gene:CALCOCO2
Variant:p.V248A

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
5 papers
NM_005831.5
p.V248A
c.743T>C
Surrounding Variants
2 papers
NM_005831.5
p.T255A
c.763A>G
1 paper
NM_005831.5
p.T273A
c.817A>G
1 paper
NM_005831.5
p.Q288K
c.862C>A
1 paper
NM_005831.5
p.Q300Q
c.900A>G
1 paper
NM_005831.5
p.M304V
c.910A>G
1 paper
NM_005831.5
p.V230M
c.688G>A
1 paper
NM_005831.5
p.E222K
c.664G>A
1 paper
NM_005831.5
p.E185K
c.553G>A
1 paper
NM_005831.5
p.Q169K
c.505C>A
1 paper
NM_005831.5
p.I164M
c.492C>G
1 paper
NM_005831.5
p.E155K
c.463G>A
4 papers
NM_005831.5
p.G140E
c.419G>A
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