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.W355*

c.1064G>A

Surrounding Variants

1 paper

NM_022162.3

p.W355*

c.1065G>A

1 paper

NM_001370466.1

p.C327G

c.979T>G

3 papers

NM_022162.3

p.D357A

c.1070A>C

NM_001370466.1

p.D330A

c.989A>C

1 paper

NM_001370466.1

p.V331F

c.991G>T

5 papers

NM_001370466.1

p.H325R

c.974A>G

1 paper

NM_022162.3

p.H352insFs

c.1054dupC

1 paper

NM_022162.3

p.L349F

c.1045C>T

1 paper

NM_001370466.1

p.D335N

c.1003G>A

1 paper

NM_001370466.1

p.L321V

c.961C>G

2 papers

NM_022162.3

p.I363F

c.1087A>T

17 papers

NM_001370466.1

p.I336insFs

c.1007_1008insC

1 paper

NM_022162.3

p.R346W

c.1036C>T