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.T201_T212del12

c.601_635del36

Surrounding Variants

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_022162.3

p.L226_S231delFs

c.676_691del16

1 paper

NM_001370466.1

p.V203fs

c.607_608fs

2 papers

NM_001370466.1

p.K198Q

c.592A>C

1 paper

NM_001370466.1

p.V203A

c.608T>C

1 paper

NM_001370466.1

p.V203V

c.609G>T

2 papers

NM_001370466.1

p.A197V

c.590C>T

NM_022162.3

p.A224V

c.671C>T

4 papers

NM_001370466.1

p.A197T

c.589G>A

1 paper

NM_001370466.1

p.A197_T212del16

c.589_635del48

1 paper

NM_001370466.1

p.A205T

c.613G>A