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.E928K

c.2782G>A

Surrounding Variants

4 papers

NM_006092.4

p.D918N

c.2752G>A

1 paper

NM_006092.4

p.G912R

c.2734G>C

1 paper

NM_006092.4

p.G912R

c.2734G>A

1 paper

NM_006092.4

p.C930Splc

c.2789+806A>G

1 paper

NM_006092.4

p.Y944C

c.2831A>G

1 paper

NM_006092.4

p.C952S

c.2854T>A

1 paper

NM_006092.4

p.C952S

c.2855G>C

1 paper

NM_006092.4

p.V894A

c.2681T>C

2 papers

NM_006092.4

p.A885T

c.2653G>A

1 paper

NM_006092.4

p.E883K

c.2647G>A

1 paper

NM_006092.4

p.N878S

c.2633A>G

1 paper

NM_006092.4

p.W874S

c.2621G>C