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

5 papers

NM_001370466.1

p.R412R

c.1236C>T

Surrounding Variants

1 paper

NM_001370466.1

p.T413A

c.1237A>G

1 paper

NM_022162.3

p.R439H

c.1316G>A

1 paper

NM_022162.3

p.R439C

c.1315C>T

NM_001370466.1

p.R412C

c.1234C>T

1 paper

NM_001370466.1

p.E414K

c.1240G>A

1 paper

NM_001370466.1

p.E414G

c.1241A>G

1 paper

NM_001370466.1

p.L417_K418insC

c.1249_1253ins3

1 paper

NM_001370466.1

p.R408G

c.1222A>G

1 paper

NM_001370466.1

p.L407L

c.1221C>G

1 paper

NM_001370466.1

p.F406S

c.1217T>C

1 paper

NM_001370466.1

p.F420_E426del7

c.1258_1277del21

3 papers

NM_001370466.1

p.A405V

c.1214C>T

7 papers

NM_001370466.1

p.S404L

c.1211C>T

NM_022162.3

p.S431L

c.1292C>T