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.V438L

c.1312G>T

Surrounding Variants

1 paper

NM_001370466.1

p.V438A

c.1313T>C

2 papers

NM_001370466.1

p.A439T

c.1315G>A

1 paper

NM_001370466.1

p.A439P

c.1315G>C

4 papers

NM_022162.3

p.G464W

c.1390G>T

NM_001370466.1

p.G437W

c.1309G>T

6 papers

NM_001370466.1

p.A439V

c.1316C>T

NM_022162.3

p.A466V

c.1397C>T

1 paper

NM_001370466.1

p.P436H

c.1307C>A

1 paper

NM_022162.3

p.P463A

c.1387C>G

1 paper

NM_001370466.1

p.P436S

c.1306C>T

1 paper

NM_022162.3

p.E462G

c.1385A>G

1 paper

NM_001370466.1

p.R441R

c.1323C>T

9 papers

NM_022162.3

p.L469F

c.1405C>T

NM_001370466.1

p.L442F

c.1324C>T

1 paper

NM_022162.3

p.L469P

c.1406T>C