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

1 paper

NM_001370466.1

p.R1010_L1011insFs

c.3030_3031insC

Surrounding Variants

2 papers

NM_001370466.1

p.R1010S

c.3030A>C

1 paper

NM_001370466.1

p.D1008G

c.3023A>G

1 paper

NM_001370466.1

p.D1008Y

c.3022G>T

1 paper

NM_001370466.1

p.L1013L

c.3039T>C

388 papers

NM_001370466.1

p.R1007insFs

c.3020_3021insC

13 papers

NM_001370466.1

p.R1007insFs

c.3019_3020insC

1 paper

NM_001370466.1

p.R1007fs

c.3019_3020fs

1 paper

NM_001370466.1

p.R1007fs

c.3019_3020fs

8 papers

NM_001370466.1

p.R1007insFs

c.3019dupA

1 paper

NM_022162.3

p.C1033S

c.3098G>C

1 paper

NM_001370466.1

p.C1006insFs

c.3018dupC

1 paper

NM_022162.3

p.C1033S

c.3097T>A