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.A27V

c.80C>T

Surrounding Variants

1 paper

NM_178844.4

p.M29L

c.85A>T

1 paper

NM_178844.4

p.M29L

c.85A>C

1 paper

NM_178844.4

p.E23K

c.67G>A

1 paper

NM_178844.4

p.P21fs

c.61_62fs

1 paper

NM_178844.4

p.P21delFs

c.62delG

1 paper

NM_178844.4

p.T18M

c.53C>T

1 paper

NM_178844.4

p.P43S

c.127C>T

1 paper

NM_178844.4

p.P43P

c.129G>A

1 paper

NM_178844.4

p.P50L

c.149C>T

1 paper

NM_178844.4

p.M1I

c.3G>T

1 paper

NM_178844.4

p.M1I

c.3G>C

1 paper

NM_178844.4

p.M1I

c.3G>A