Varaico: Literature-Extracted Genetic Variants

Gene:CALCOCO2
Variant:p.E316_N317insFs

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.E316_N317insFs
c.948_949insG
Surrounding Variants
1 paper
NM_005831.5
p.M304V
c.910A>G
1 paper
NM_005831.5
p.Q300Q
c.900A>G
1 paper
NM_005831.5
p.Q288K
c.862C>A
1 paper
NM_005831.5
p.T273A
c.817A>G
2 papers
NM_005831.5
p.T255A
c.763A>G
5 papers
NM_005831.5
p.V248A
c.743T>C
1 paper
NM_005831.5
p.D336_L337Splc
c.1009-3T>C
1 paper
NM_005831.5
p.L346_S347insFs
c.1038_1039insG
1 paper
NM_005831.5
p.P357L
c.1070C>T
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."