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.S505delFs

c.1515delC

Surrounding Variants

1 paper

NM_001370466.1

p.S505insFs

c.1515dupC

1 paper

NM_001370466.1

p.G507_L508del1

c.1521_1523delTCT

2 papers

NM_022162.3

p.P528delFs

c.1582delC

NM_001370466.1

p.P501delFs

c.1502delC

12 papers

NM_001370466.1

p.L513P

c.1538T>C

2 papers

NM_001370466.1

p.L513R

c.1538T>G

2 papers

NM_001370466.1

p.R514W

c.1540C>T

2 papers

NM_022162.3

p.R541P

c.1622G>C

NM_001370466.1

p.R514P

c.1541G>C

1 paper

NM_001370466.1

p.Q492P

c.1475A>C

1 paper

NM_001370466.1

p.H522delFs

c.1564delC

1 paper

NM_001370466.1

p.H522D

c.1564C>G

1 paper

NM_001370466.1

p.H522R

c.1565A>G

2 papers

NM_022162.3

p.L550V

c.1648C>G