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.V318V

c.954G>C

Surrounding Variants

1 paper

NM_022162.3

p.R346W

c.1036C>T

1 paper

NM_001370466.1

p.V318E

c.953T>A

1 paper

NM_001370466.1

p.S317insFs

c.951dupT

1 paper

NM_001370466.1

p.L321V

c.961C>G

1 paper

NM_001370466.1

p.L316P

c.947T>C

2 papers

NM_001370466.1

p.P315L

c.944C>T

1 paper

NM_022162.3

p.L349F

c.1045C>T

1 paper

NM_001370466.1

p.P315S

c.943C>T

3 papers

NM_001370466.1

p.A313D

c.938C>A

1 paper

NM_022162.3

p.H352insFs

c.1054dupC

5 papers

NM_001370466.1

p.H325R

c.974A>G

1 paper

NM_001370466.1

p.C327G

c.979T>G