Varaico: Literature-Extracted Genetic Variants

NOD2

1,189 papers

RefSeq Summary

This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the periphe...

Pfam Domains

CARDaa 31–121UCSCCaspase recruitment domain

NACHTaa 293–463UCSCNACHT domain

WHD_NOD2aa 545–601UCSCNOD2 winged helix domain

NLRC4_HD2aa 603–757UCSCNLRC4 helical domain HD2

LRR_6aa 897–920UCSCLeucine Rich repeat

LRR_6aa 925–948UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

nucleotide binding oligomerization domain containing 2

HGNC Previous Symbols

IBD1; CARD15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001370466.1

p.T267I

c.800C>T

Surrounding Variants

2 papers

NM_001370466.1

p.T267S

c.800C>G

NM_022162.3

p.T294S

c.881C>G

2 papers

NM_001370466.1

p.T267S

c.799A>T

NM_022162.3

p.T294S

c.880A>T

1 paper

NM_001370466.1

p.V268M

c.802G>A

2 papers

NM_001370466.1

p.D266N

c.796G>A

1 paper

NM_022162.3

p.D291G

c.872A>G

2 papers

NM_001370466.1

p.D264N

c.790G>A

NM_022162.3

p.D291N

c.871G>A

7 papers

NM_022162.3

p.N289S

c.866A>G

NM_001370466.1

p.N262S

c.785A>G

1 paper

NM_001370466.1

p.A274V

c.821C>T

1 paper

NM_001370466.1

p.G275D

c.824G>A

1 paper

NM_001370466.1

p.G259C

c.775G>T

1 paper

NM_001370466.1

p.G277V

c.830G>T

1 paper

NM_001370466.1

p.L281F

c.841C>T