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.D342H

c.1024G>C

Surrounding Variants

1 paper

NM_001370466.1

p.L341P

c.1022T>C

1 paper

NM_001370466.1

p.H343Y

c.1027C>T

1 paper

NM_001370466.1

p.P344L

c.1031C>T

1 paper

NM_001370466.1

p.Q338R

c.1013A>G

4 papers

NM_001370466.1

p.R346C

c.1036C>T

NM_022162.3

p.R373C

c.1117C>T

17 papers

NM_001370466.1

p.I336insFs

c.1007_1008insC

2 papers

NM_022162.3

p.I363F

c.1087A>T

4 papers

NM_001370466.1

p.L348V

c.1042C>G

1 paper

NM_001370466.1

p.D335N

c.1003G>A

1 paper

NM_001370466.1

p.L349V

c.1045T>G

1 paper

NM_001370466.1

p.L349F

c.1047A>C

1 paper

NM_001370466.1

p.L349F

c.1047A>T