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_001370466.1

p.A234A

c.702A>T

Surrounding Variants

1 paper

NM_001370466.1

p.D235A

c.704A>C

1 paper

NM_001370466.1

p.G237C

c.709G>T

1 paper

NM_001370466.1

p.L230P

c.689T>C

1 paper

NM_001370466.1

p.G240E

c.719G>A

1 paper

NM_022162.3

p.P268T

c.802C>A

12 papers

NM_022162.3

p.P268S

c.802C>T

NM_001370466.1

p.P241S

c.721C>T

1 paper

NM_001370466.1

p.N228Y

c.682A>T

1 paper

NM_001370466.1

p.E227_V232delFs

c.679_694del16

1 paper

NM_001370466.1

p.P242P

c.726G>A

1 paper

NM_001370466.1

p.T226_E231delFs

c.677_693del17

1 paper

NM_001370466.1

p.I224delFs

c.671delT

2 papers

NM_022162.3

p.S272S

c.816C>T

NM_001370466.1

p.S245S

c.735C>T