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.F712S

c.2135T>C

Surrounding Variants

1 paper

NM_001370466.1

p.L715R

c.2144T>G

1 paper

NM_001370466.1

p.R717R

c.2149C>A

1 paper

NM_022162.3

p.R744W

c.2230C>T

1 paper

NM_022162.3

p.V733L

c.2197G>C

1 paper

NM_022162.3

p.V733L

c.2197G>T

1 paper

NM_022162.3

p.L746P

c.2237T>C

1 paper

NM_001370466.1

p.E721K

c.2161G>A

1 paper

NM_001370466.1

p.A703D

c.2108C>A

1 paper

NM_001370466.1

p.A703V

c.2108C>T

1 paper

NM_022162.3

p.P727L

c.2180C>T

2 papers

NM_001370466.1

p.R726W

c.2176C>T

5 papers

NM_022162.3

p.A725G

c.2174C>G

NM_001370466.1

p.A698G

c.2093C>G