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

64 papers

NM_001370466.1

p.R675W

c.2023C>T

NM_022162.3

p.R702W

c.2104C>T

Surrounding Variants

13 papers

NM_001370466.1

p.R676C

c.2026C>T

NM_022162.3

p.R703C

c.2107C>T

1 paper

NM_001370466.1

p.Q677E

c.2029C>G

1 paper

NM_001370466.1

p.L673L

c.2017C>T

1 paper

NM_001370466.1

p.A680T

c.2038G>A

4 papers

NM_022162.3

p.R708H

c.2123G>A

NM_001370466.1

p.R681H

c.2042G>A

2 papers

NM_001370466.1

p.T668I

c.2003C>T

1 paper

NM_022162.3

p.W709*

c.2126G>A

1 paper

NM_022162.3

p.W709*

c.2127G>A

2 papers

NM_001370466.1

p.W682C

c.2046G>T

7 papers

NM_001370466.1

p.L684L

c.2050C>T

1 paper

NM_001370466.1

p.E665K

c.1993G>A

2 papers

NM_001370466.1

p.R686C

c.2056C>T