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

112 papers

NM_001370466.1

p.V908L

c.2722G>C

Surrounding Variants

1 paper

NM_022162.3

p.V935M

c.2803G>A

5 papers

NM_001370466.1

p.V908L

c.2722G>T

1 paper

NM_001370466.1

p.G909R

c.2725G>A

1 paper

NM_001370466.1

p.G909R

c.2725G>C

1 paper

NM_001370466.1

p.I912V

c.2734A>G

1 paper

NM_001370466.1

p.G913G

c.2739C>T

2 papers

NM_022162.3

p.K953E

c.2857A>G

1 paper

NM_022162.3

p.N954N

c.2862C>T

9 papers

NM_022162.3

p.V955I

c.2863G>A

NM_001370466.1

p.V928I

c.2782G>A

1 paper

NM_022162.3

p.E959K

c.2875G>A

1 paper

NM_001370466.1

p.E932A

c.2795A>C

1 paper

NM_001370466.1

p.C934G

c.2800T>G