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.A498T

c.1492G>A

Surrounding Variants

1 paper

NM_178844.4

p.R496K

c.1487G>A

1 paper

NM_178844.4

p.R501Q

c.1502G>A

1 paper

NM_178844.4

p.W486S

c.1457G>C

1 paper

NM_178844.4

p.V512M

c.1534G>A

1 paper

NM_178844.4

p.G483S

c.1447G>A

1 paper

NM_178844.4

p.S482N

c.1445G>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.A465delFs

c.1395delC

1 paper

NM_178844.4

p.A465fs

c.1393_1394fs

1 paper

NM_178844.4

p.A535T

c.1603G>A

1 paper

NM_178844.4

p.L458L

c.1374G>A