Varaico: Literature-Extracted Genetic Variants

NOD1

251 papers

RefSeq Summary

This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-rec...

Pfam Domains

CARDaa 20–104UCSCCaspase recruitment domain

NACHTaa 196–368UCSCNACHT domain

WHD_NOD2aa 458–515UCSCNOD2 winged helix domain

NLRC4_HD2aa 517–669UCSCNLRC4 helical domain HD2

LRR_6aa 729–749UCSCLeucine Rich repeat

LRR_6aa 783–805UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

nucleotide binding oligomerization domain containing 1

HGNC Previous Symbol

CARD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006092.4

p.Q494H

c.1482G>C

Surrounding Variants

1 paper

NM_006092.4

p.Q494H

c.1482G>T

1 paper

NM_006092.4

p.R499Q

c.1496G>A

1 paper

NM_006092.4

p.G505V

c.1514G>T

1 paper

NM_006092.4

p.G508R

c.1522G>C

1 paper

NM_006092.4

p.L475fs

c.1423_1424fs

1 paper

NM_006092.4

p.F515fs

c.1543_1544fs

1 paper

NM_006092.4

p.E472A

c.1415A>C

1 paper

NM_006092.4

p.H468Y

c.1402C>T

1 paper

NM_006092.4

p.F523L

c.1567T>C

1 paper

NM_006092.4

p.V466L

c.1396G>T

1 paper

NM_006092.4

p.V466L

c.1396G>C

1 paper

NM_006092.4

p.F523L

c.1569C>G