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

2 papers

NM_001370466.1

p.A893T

c.2677G>A

Surrounding Variants

12 papers

NM_001370466.1

p.A893S

c.2677G>T

6 papers

NM_001370466.1

p.A891D

c.2672C>A

NM_022162.3

p.A918D

c.2753C>A

1 paper

NM_001370466.1

p.A891S

c.2671G>T

NM_022162.3

p.A918S

c.2752G>T

1 paper

NM_001370466.1

p.G897D

c.2690G>A

1 paper

NM_001370466.1

p.D898G

c.2693A>G

1 paper

NM_001370466.1

p.E887D

c.2661G>C

1 paper

NM_001370466.1

p.E887D

c.2661G>T

1 paper

NM_001370466.1

p.E887K

c.2659G>A

1 paper

NM_001370466.1

p.D886N

c.2656G>A

2 papers

NM_001370466.1

p.G885R

c.2653G>C

1 paper

NM_001370466.1

p.W904*

c.2712G>A

1 paper

NM_022162.3

p.G908S

c.2722G>A