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.L864V

c.2590C>G

Surrounding Variants

1 paper

NM_178844.4

p.N861K

c.2583C>G

1 paper

NM_178844.4

p.N861K

c.2583C>A

1 paper

NM_178844.4

p.Q852*

c.2554C>T

1 paper

NM_178844.4

p.E849K

c.2545G>A

1 paper

NM_178844.4

p.P848L

c.2543C>T

1 paper

NM_178844.4

p.L869M

c.2605C>A

1 paper

NM_178844.4

p.L873I

c.2617C>A

1 paper

NM_178844.4

p.R880W

c.2638C>T

1 paper

NM_178844.4

p.I882V

c.2644A>G

3 papers

NM_178844.4

p.A906T

c.2716G>A

1 paper

NM_178844.4

p.G911E

c.2732G>A

1 paper

NM_178844.4

p.Q912*

c.2734C>T