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.E227_V232delFs

c.679_694del16

Surrounding Variants

1 paper

NM_001370466.1

p.T226_E231delFs

c.677_693del17

1 paper

NM_001370466.1

p.N228Y

c.682A>T

1 paper

NM_001370466.1

p.I224delFs

c.671delT

1 paper

NM_001370466.1

p.I224_E227del4

c.670_680del12

1 paper

NM_001370466.1

p.L230P

c.689T>C

6 papers

NM_022162.3

p.L248R

c.743T>G

NM_001370466.1

p.L221R

c.662T>G

1 paper

NM_001370466.1

p.C220W

c.660C>G

2 papers

NM_001370466.1

p.A234A

c.702A>T

1 paper

NM_001370466.1

p.D235A

c.704A>C

1 paper

NM_001370466.1

p.E217K

c.649G>A

1 paper

NM_001370466.1

p.G237C

c.709G>T

2 papers

NM_001370466.1

p.A216T

c.646G>A