Varaico: Literature-Extracted Genetic Variants

NOD1

251 papers

RefSeq Summary

This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-rec...

Pfam Domains

CARDaa 20–104UCSCCaspase recruitment domain

NACHTaa 196–368UCSCNACHT domain

WHD_NOD2aa 458–515UCSCNOD2 winged helix domain

NLRC4_HD2aa 517–669UCSCNLRC4 helical domain HD2

LRR_6aa 729–749UCSCLeucine Rich repeat

LRR_6aa 783–805UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

nucleotide binding oligomerization domain containing 1

HGNC Previous Symbol

CARD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006092.4

p.A612T

c.1834G>A

Surrounding Variants

1 paper

NM_006092.4

p.A612V

c.1835C>T

1 paper

NM_006092.4

p.R617C

c.1849C>T

1 paper

NM_006092.4

p.R617H

c.1850G>A

1 paper

NM_006092.4

p.L620Q

c.1859T>A

1 paper

NM_006092.4

p.L635V

c.1903C>G

1 paper

NM_006092.4

p.L635_P636insFs

c.1905_1906insC

1 paper

NM_006092.4

p.P636S

c.1906C>T

1 paper

NM_006092.4

p.R637insFs

c.1909_1910insC

1 paper

NM_006092.4

p.R637H

c.1910G>A

2 papers

NM_006092.4

p.R637fs

c.1909_1910fs

1 paper

NM_006092.4

p.Q639L

c.1916A>T

1 paper

NM_006092.4

p.E641G

c.1922A>G