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.K628_D629insFs

c.1884_1885insG

Surrounding Variants

1 paper

NM_001370466.1

p.D629N

c.1885G>A

1 paper

NM_001370466.1

p.G627E

c.1880G>A

1 paper

NM_001370466.1

p.S630insFs

c.1888_1889insT

1 paper

NM_001370466.1

p.Q623Q

c.1869G>A

1 paper

NM_022162.3

p.A660G

c.1979C>G

1 paper

NM_001370466.1

p.A633V

c.1898C>T

1 paper

NM_001370466.1

p.A634_E640delFs

c.1901_1919del19

1 paper

NM_001370466.1

p.L636Q

c.1907T>A

1 paper

NM_001370466.1

p.P618R

c.1853C>G

1 paper

NM_022162.3

p.E667K

c.1999G>A

1 paper

NM_001370466.1

p.E640E

c.1920G>A

1 paper

NM_022162.3

p.P668fs

c.2002_2003fs