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.G567R

c.1699G>A

Surrounding Variants

1 paper

NM_001370466.1

p.G567E

c.1700G>A

1 paper

NM_001370466.1

p.V565M

c.1693G>A

NM_022162.3

p.V592M

c.1774G>A

1 paper

NM_001370466.1

p.T569T

c.1707G>A

1 paper

NM_001370466.1

p.V564I

c.1690G>A

5 papers

NM_022162.3

p.R587R

c.1761T>G

NM_001370466.1

p.R560R

c.1680T>G

7 papers

NM_022162.3

p.R587C

c.1759C>T

NM_001370466.1

p.R560C

c.1678C>T

1 paper

NM_001370466.1

p.L558R

c.1673T>G

1 paper

NM_022162.3

p.H603N

c.1807C>A

3 papers

NM_001370466.1

p.L558L

c.1672C>T

3 papers

NM_022162.3

p.T605P

c.1813A>C

5 papers

NM_022162.3

p.T605N

c.1814C>A

1 paper

NM_001370466.1

p.F579L

c.1737C>A