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

1–12 of 745 variants

388 papers

NM_001370466.1

p.R1007insFs

c.3020_3021insC

112 papers

NM_001370466.1

p.V908L

c.2722G>C

42 papers

NM_022162.3

p.R702W

c.2104C>T

42 papers

NM_022162.3

p.G908R

c.2722G>C

23 papers

NM_001370466.1

p.R675W

c.2023C>T

22 papers

NM_022162.3

p.R334Q

c.1001G>A

20 papers

NM_001370466.1

p.G881R

c.2641G>C

19 papers

NM_022162.3

p.R334W

c.1000C>T

17 papers

NM_001370466.1

p.I336insFs

c.1007_1008insC

14 papers

NM_022162.3

p.E383K

c.1147G>A

14 papers

NM_001370466.1

p.A979insFs

c.2936_2937insC

14 papers

NM_022162.3

p.L1007insFs

c.3019dupC