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

1–12 of 212 variants

46 papers

NM_006092.4

p.E266K

c.796G>A

8 papers

NM_006092.4

p.E56K

c.166G>A

5 papers

NM_006092.4

p.E53K

c.157G>A

4 papers

NM_006092.4

p.A52A

c.156C>G

4 papers

NM_006092.4

p.D918N

c.2752G>A

3 papers

NM_006092.4

p.S7N

c.20G>A

3 papers

NM_006092.4

p.K208R

c.623A>G

3 papers

NM_006092.4

p.W219R

c.655T>C

3 papers

NM_006092.4

p.W219R

c.655T>A

3 papers

NM_006092.4

p.L349P

c.1046T>C

3 papers

NM_006092.4

p.M364L

c.1090A>T

3 papers

NM_006092.4

p.M364L

c.1090A>C