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.S365*

c.1094C>G

Surrounding Variants

1 paper

NM_178844.4

p.S365*

c.1094C>A

1 paper

NM_178844.4

p.L360P

c.1079T>C

1 paper

NM_178844.4

p.G374R

c.1120G>A

1 paper

NM_178844.4

p.G374E

c.1121G>A

1 paper

NM_178844.4

p.E375K

c.1123G>A

1 paper

NM_178844.4

p.W355S

c.1064G>C

1 paper

NM_178844.4

p.G376fs

c.1126_1127fs

1 paper

NM_178844.4

p.G376delFs

c.1128delC

1 paper

NM_178844.4

p.G348E

c.1043G>A

1 paper

NM_178844.4

p.S345T

c.1034G>C

2 papers

NM_178844.4

p.R385H

c.1154G>A

2 papers

NM_178844.4

p.R344C

c.1030C>T