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

2 papers

NM_001370466.1

p.A291T

c.871G>A

Surrounding Variants

1 paper

NM_001370466.1

p.A290V

c.869C>T

1 paper

NM_001370466.1

p.W289*

c.867G>A

1 paper

NM_001370466.1

p.W289*

c.866G>A

1 paper

NM_001370466.1

p.Q293K

c.877C>A

1 paper

NM_001370466.1

p.D294H

c.880G>C

2 papers

NM_001370466.1

p.D294E

c.882C>A

2 papers

NM_001370466.1

p.D294E

c.882C>G

1 paper

NM_001370466.1

p.H286R

c.857A>G

7 papers

NM_022162.3

p.R311W

c.931C>T

NM_001370466.1

p.R284W

c.850C>T

1 paper

NM_001370466.1

p.L281L

c.843C>T

1 paper

NM_001370466.1

p.F300Y

c.899T>A

1 paper

NM_001370466.1

p.L281F

c.841C>T