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.G454C

c.1360G>T

Surrounding Variants

5 papers

NM_022162.3

p.G481D

c.1442G>A

NM_001370466.1

p.G454D

c.1361G>A

1 paper

NM_022162.3

p.C483W

c.1449C>G

1 paper

NM_001370466.1

p.H457Y

c.1369C>T

1 paper

NM_022162.3

p.L485L

c.1453C>T

1 paper

NM_001370466.1

p.P459S

c.1375C>T

4 papers

NM_022162.3

p.W490L

c.1469G>T

1 paper

NM_022162.3

p.R471P

c.1412G>C

1 paper

NM_022162.3

p.R471L

c.1412G>T

6 papers

NM_022162.3

p.R471C

c.1411C>T

NM_001370466.1

p.R444C

c.1330C>T

1 paper

NM_022162.3

p.L469P

c.1406T>C

9 papers

NM_022162.3

p.L469F

c.1405C>T

NM_001370466.1

p.L442F

c.1324C>T

1 paper

NM_001370466.1

p.R441R

c.1323C>T