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

2 papers

NM_022162.3

p.Q233*

c.697C>T

NM_001370466.1

p.Q206*

c.616C>T

Surrounding Variants

1 paper

NM_001370466.1

p.A205T

c.613G>A

2 papers

NM_001370466.1

p.R208C

c.622C>T

1 paper

NM_001370466.1

p.V203V

c.609G>T

1 paper

NM_001370466.1

p.V203A

c.608T>C

1 paper

NM_001370466.1

p.V203fs

c.607_608fs

1 paper

NM_001370466.1

p.F209L

c.627C>A

1 paper

NM_001370466.1

p.S211N

c.632G>A

1 paper

NM_001370466.1

p.T201_T212del12

c.601_635del36

1 paper

NM_001370466.1

p.R200K

c.599G>A

1 paper

NM_022162.3

p.R227fs

c.679_680fs

1 paper

NM_001370466.1

p.L199L

c.595C>T

1 paper

NM_001370466.1

p.Y213C

c.638A>G