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.G505A

c.1514G>C

Surrounding Variants

1 paper

NM_022162.3

p.S506fs

c.1516_1517fs

1 paper

NM_001370466.1

p.E476E

c.1428G>A

1 paper

NM_022162.3

p.G505insFs

c.1515dupG

1 paper

NM_001370466.1

p.P480P

c.1440A>G

1 paper

NM_001370466.1

p.K481K

c.1443G>A

1 paper

NM_022162.3

p.E498D

c.1494A>C

1 paper

NM_022162.3

p.E498D

c.1494A>T

1 paper

NM_001370466.1

p.D485N

c.1453G>A

3 papers

NM_022162.3

p.E498G

c.1493A>G

NM_001370466.1

p.E471G

c.1412A>G

1 paper

NM_022162.3

p.E498V

c.1493A>T

1 paper

NM_022162.3

p.E498K

c.1492G>A

2 papers

NM_022162.3

p.E498_L500del0

c.1493_1498del6