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.L349P

c.1046T>C

Surrounding Variants

1 paper

NM_006092.4

p.R344R

c.1032G>C

1 paper

NM_006092.4

p.R344Q

c.1031G>A

1 paper

NM_006092.4

p.R344W

c.1030C>T

1 paper

NM_006092.4

p.S355C

c.1063A>T

1 paper

NM_006092.4

p.K346_P354del9

c.1036_1061del27

1 paper

NM_006092.4

p.Q341*

c.1021C>T

1 paper

NM_006092.4

p.A361D

c.1082C>A

1 paper

NM_006092.4

p.E337V

c.1010A>T

1 paper

NM_006092.4

p.R362G

c.1084A>G

3 papers

NM_006092.4

p.M364L

c.1090A>T

3 papers

NM_006092.4

p.M364L

c.1090A>C

1 paper

NM_006092.4

p.E367K

c.1099G>A