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

1–12 of 166 variants

3 papers

NM_178844.4

p.R282Q

c.845G>A

3 papers

NM_178844.4

p.R750W

c.2248C>T

3 papers

NM_178844.4

p.A906T

c.2716G>A

3 papers

NM_178844.4

p.R940H

c.2819G>A

2 papers

NM_178844.4

p.P53L

c.158C>T

2 papers

NM_178844.4

p.R67C

c.199C>T

2 papers

NM_178844.4

p.A69V

c.206C>T

2 papers

NM_178844.4

p.R180Q

c.539G>A

2 papers

NM_178844.4

p.S205G

c.613A>G

2 papers

NM_178844.4

p.R268C

c.802C>T

2 papers

NM_178844.4

p.R282W

c.844C>T

2 papers

NM_178844.4

p.E293D

c.879G>T