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

27 papers

NM_022162.3

p.L1007insFs

c.3019dupC

NM_001370466.1

p.A979insFs

c.2936_2937insC

Surrounding Variants

1 paper

NM_001370466.1

p.A979fs

c.2935_2936fs

16 papers

NM_022162.3

p.L1007fs

c.3019_3020fs

NM_001370466.1

p.L980fs

c.2938_2939fs

10 papers

NM_022162.3

p.L1007fs

c.3019_3020fs

NM_001370466.1

p.L980fs

c.2938_2939fs

2 papers

NM_022162.3

p.L1007P

c.3020T>C

19 papers

NM_001370466.1

p.L980insFs

c.2939_2940insC

NM_022162.3

p.L1007insFs

c.3020_3021insC

1 paper

NM_022162.3

p.E1008*

c.3022G>T

1 paper

NM_022162.3

p.E1008G

c.3023A>G

1 paper

NM_001370466.1

p.L976_Q978delFs

c.2928_2932del5

1 paper

NM_001370466.1

p.L976fs

c.2926_2927fs

1 paper

NM_001370466.1

p.A975A

c.2925C>T

1 paper

NM_001370466.1

p.E974G

c.2921A>G

1 paper

NM_001370466.1

p.G972R

c.2914G>A