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.H135N

c.403C>A

Surrounding Variants

1 paper

NM_006092.4

p.R134Q

c.401G>A

1 paper

NM_006092.4

p.R134*

c.400C>T

1 paper

NM_006092.4

p.H136R

c.407A>G

1 paper

NM_006092.4

p.L133R

c.398T>G

2 papers

NM_006092.4

p.L145P

c.434T>C

1 paper

NM_006092.4

p.M160I

c.480G>A

1 paper

NM_006092.4

p.D161D

c.483C>T

1 paper

NM_006092.4

p.E165K

c.493G>A

1 paper

NM_006092.4

p.C182*

c.546C>A

1 paper

NM_006092.4

p.L184L

c.550C>T

1 paper

NM_006092.4

p.Q194K

c.580C>A

1 paper

NM_006092.4

p.G195_E196insT

c.583_587ins3