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.S209Y

c.626C>A

Surrounding Variants

3 papers

NM_006092.4

p.K208R

c.623A>G

1 paper

NM_006092.4

p.G207D

c.620G>A

1 paper

NM_006092.4

p.R214W

c.640C>T

1 paper

NM_006092.4

p.R214Q

c.641G>A

3 papers

NM_006092.4

p.W219R

c.655T>C

3 papers

NM_006092.4

p.W219R

c.655T>A

1 paper

NM_006092.4

p.I198L

c.592A>C

2 papers

NM_006092.4

p.T197I

c.590C>T

1 paper

NM_006092.4

p.G195_E196insT

c.583_587ins3

1 paper

NM_006092.4

p.Q194K

c.580C>A

1 paper

NM_006092.4

p.A226T

c.676G>A

1 paper

NM_006092.4

p.F230C

c.689T>G