Varaico: Literature-Extracted Genetic Variants

Gene:CALCOCO2
Variant:p.P389T

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.P389T
c.1165C>A
Surrounding Variants
5 papers
NM_005831.5
p.P389A
c.1165C>G
1 paper
NM_005831.5
p.K395T
c.1184A>C
1 paper
NM_005831.5
p.E411D
c.1233G>C
1 paper
NM_005831.5
p.E411D
c.1233G>T
1 paper
NM_005831.5
p.C422*
c.1266T>A
1 paper
NM_005831.5
p.D439A
c.1316A>C
1 paper
NM_005831.5
p.P357L
c.1070C>T
1 paper
NM_005831.5
p.L346_S347insFs
c.1038_1039insG
1 paper
NM_005831.5
p.D336_L337Splc
c.1009-3T>C
1 paper
NM_005831.5
p.E316_N317insFs
c.948_949insG
1 paper
NM_005831.5
p.M304V
c.910A>G
1 paper
NM_005831.5
p.Q300Q
c.900A>G
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