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_022162.3

p.F388C

c.1163T>G

Surrounding Variants

2 papers

NM_001370466.1

p.D363N

c.1087G>A

1 paper

NM_022162.3

p.D390V

c.1169A>T

1 paper

NM_001370466.1

p.R364S

c.1090C>A

1 paper

NM_001370466.1

p.K358R

c.1073A>G

1 paper

NM_001370466.1

p.F357Y

c.1070T>A

2 papers

NM_022162.3

p.R393C

c.1177C>T

NM_001370466.1

p.R366C

c.1096C>T

1 paper

NM_022162.3

p.E383D

c.1149G>C

1 paper

NM_022162.3

p.E383D

c.1149G>T

3 papers

NM_022162.3

p.E383G

c.1148A>G

2 papers

NM_001370466.1

p.R366H

c.1097G>A

1 paper

NM_001370466.1

p.R366R

c.1098C>T

14 papers

NM_022162.3

p.E383K

c.1147G>A