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.S448L

c.1343C>T

Surrounding Variants

1 paper

NM_178844.4

p.S447L

c.1340C>T

1 paper

NM_178844.4

p.R441G

c.1321A>G

1 paper

NM_178844.4

p.L458L

c.1374G>A

2 papers

NM_178844.4

p.P434L

c.1301C>T

1 paper

NM_178844.4

p.A433D

c.1298C>A

1 paper

NM_178844.4

p.A465fs

c.1393_1394fs

1 paper

NM_178844.4

p.A465delFs

c.1395delC

1 paper

NM_178844.4

p.A428T

c.1282G>A

1 paper

NM_178844.4

p.A470S

c.1408G>T

1 paper

NM_178844.4

p.A470P

c.1408G>C

1 paper

NM_178844.4

p.D426H

c.1276G>C

1 paper

NM_178844.4

p.G424D

c.1271G>A