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.L349F

c.1047A>C

Surrounding Variants

1 paper

NM_001370466.1

p.L349F

c.1047A>T

1 paper

NM_001370466.1

p.T350I

c.1049C>T

1 paper

NM_001370466.1

p.L349V

c.1045T>G

4 papers

NM_001370466.1

p.L348V

c.1042C>G

1 paper

NM_022162.3

p.D379A

c.1136A>C

3 papers

NM_001370466.1

p.D352G

c.1055A>G

4 papers

NM_001370466.1

p.R346C

c.1036C>T

NM_022162.3

p.R373C

c.1117C>T

1 paper

NM_001370466.1

p.P344L

c.1031C>T

1 paper

NM_022162.3

p.D382N

c.1144G>A

6 papers

NM_022162.3

p.D382E

c.1146C>A

6 papers

NM_022162.3

p.D382E

c.1146C>G

14 papers

NM_022162.3

p.E383K

c.1147G>A