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.E28A

c.83A>C

Surrounding Variants

2 papers

NM_006092.4

p.R27Q

c.80G>A

1 paper

NM_006092.4

p.N26S

c.77A>G

1 paper

NM_006092.4

p.S25fs

c.73_74fs

1 paper

NM_006092.4

p.R35C

c.103C>T

1 paper

NM_006092.4

p.R35H

c.104G>A

1 paper

NM_006092.4

p.Q21K

c.61C>A

1 paper

NM_006092.4

p.N36S

c.107A>G

1 paper

NM_006092.4

p.I20L

c.58A>C

1 paper

NM_006092.4

p.Q38delFs

c.112_113delTG

2 papers

NM_006092.4

p.C39S

c.115T>A

2 papers

NM_006092.4

p.C39S

c.116G>C

1 paper

NM_006092.4

p.V41A

c.122T>C