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

3 papers

NM_178844.4

p.R750W

c.2248C>T

Surrounding Variants

1 paper

NM_178844.4

p.R735R

c.2205G>A

1 paper

NM_178844.4

p.H756Q

c.2268C>G

1 paper

NM_178844.4

p.H756Q

c.2268C>A

1 paper

NM_178844.4

p.I762N

c.2285T>A

1 paper

NM_178844.4

p.R769Q

c.2306G>A

1 paper

NM_178844.4

p.A773fs

c.2317_2318fs

1 paper

NM_178844.4

p.A773delFs

c.2319delG

1 paper

NM_178844.4

p.L774F

c.2322G>T

1 paper

NM_178844.4

p.L774fs

c.2320_2321fs

1 paper

NM_178844.4

p.L774F

c.2322G>C

1 paper

NM_178844.4

p.K719N

c.2157G>T

1 paper

NM_178844.4

p.K719N

c.2157G>C