Varaico: Literature-Extracted Genetic Variants

NLRC3

81 papers

RefSeq Summary

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to pr...

Pfam Domains

NACHTaa 139–305UCSCNACHT domain

WHD_NOD2aa 395–453UCSCNOD2 winged helix domain

NLRC4_HD2aa 455–582UCSCNLRC4 helical domain HD2

LRR_6aa 692–715UCSCLeucine Rich repeat

LRR_6aa 721–743UCSCLeucine Rich repeat

LRR_TMOD-LMODaa 763–847UCSCTMOD/LMOD Leucine-rich domain

Gene Aliases

HGNC Name

NLR family CARD domain containing 3

HGNC Alias Symbols

CLR16.2; FLJ00348; NOD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178844.4

p.R1031G

c.3091A>G

Surrounding Variants

1 paper

NM_178844.4

p.R1031insFs

c.3093dupG

1 paper

NM_178844.4

p.L1032fs

c.3094_3095fs

1 paper

NM_178844.4

p.A1025S

c.3073G>T

1 paper

NM_178844.4

p.G1043A

c.3128G>C

1 paper

NM_178844.4

p.S1045C

c.3134C>G

1 paper

NM_178844.4

p.L1007insFs

c.3020_3021insC

1 paper

NM_178844.4

p.R1005Q

c.3014G>A

1 paper

NM_178844.4

p.I986T

c.2957T>C

1 paper

NM_178844.4

p.D980N

c.2938G>A

1 paper

NM_178844.4

p.L951V

c.2851C>G

3 papers

NM_178844.4

p.R940H

c.2819G>A

1 paper

NM_178844.4

p.G934R

c.2800G>C