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.L309P

c.926T>C

Surrounding Variants

2 papers

NM_001370466.1

p.Q308*

c.922C>T

25 papers

NM_022162.3

p.R334Q

c.1001G>A

NM_001370466.1

p.R307Q

c.920G>A

19 papers

NM_022162.3

p.R334W

c.1000C>T

1 paper

NM_001370466.1

p.C306W

c.918C>G

3 papers

NM_001370466.1

p.A313D

c.938C>A

1 paper

NM_001370466.1

p.P315S

c.943C>T

2 papers

NM_001370466.1

p.P315L

c.944C>T

1 paper

NM_001370466.1

p.P303S

c.907C>T

1 paper

NM_001370466.1

p.P303_K314del12

c.907_941del36

1 paper

NM_001370466.1

p.L316P

c.947T>C

1 paper

NM_001370466.1

p.S317insFs

c.951dupT

1 paper

NM_001370466.1

p.F300Y

c.899T>A