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

4 papers

NM_001370466.1

p.A585T

c.1753G>A

NM_022162.3

p.A612T

c.1834G>A

Surrounding Variants

5 papers

NM_022162.3

p.A611A

c.1833C>T

NM_001370466.1

p.A584A

c.1752C>T

2 papers

NM_001370466.1

p.A585V

c.1754C>T

NM_022162.3

p.A612V

c.1835C>T

1 paper

NM_001370466.1

p.F583delFs

c.1747delT

1 paper

NM_001370466.1

p.Y587Y

c.1761C>T

1 paper

NM_001370466.1

p.C581Y

c.1742G>A

1 paper

NM_001370466.1

p.L590F

c.1768C>T

1 paper

NM_001370466.1

p.F579L

c.1737C>A

5 papers

NM_022162.3

p.T605N

c.1814C>A

3 papers

NM_022162.3

p.T605P

c.1813A>C

1 paper

NM_001370466.1

p.A592T

c.1774G>A

1 paper

NM_001370466.1

p.A592S

c.1774G>T

1 paper

NM_022162.3

p.H603N

c.1807C>A