Varaico: Literature-Extracted Genetic Variants

NLRC5

141 papers

RefSeq Summary

This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation a...

Pfam Domains

Atypical_Cardaa 1–95UCSCAtypical caspase recruitment domain

NACHTaa 222–383UCSCNACHT domain

HTH_NLRC5aa 451–512UCSCNLRC5, helix-turn-helix domain

NLRC4_HD2aa 514–629UCSCNLRC4 helical domain HD2

LRR_6aa 870–891UCSCLeucine Rich repeat

LRR_6aa 1006–1025UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family CARD domain containing 5

HGNC Alias Symbols

NOD27; CLR16.1; FLJ21709

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001384950.1

p.G835S

c.2503G>A

Surrounding Variants

2 papers

NM_001384950.1

p.H857R

c.2570A>G

1 paper

NM_001384950.1

p.D858N

c.2572G>A

1 paper

NM_001384950.1

p.L862L

c.2586C>T

1 paper

NM_001384950.1

p.L865P

c.2594T>C

1 paper

NM_001384950.1

p.H871N

c.2611C>A

1 paper

NM_001384950.1

p.E874K

c.2620G>A

1 paper

NM_001384950.1

p.E807K

c.2419G>A

1 paper

NM_001384950.1

p.L889P

c.2666T>C

1 paper

NM_001384950.1

p.K902R

c.2705A>G

2 papers

NM_001384950.1

p.V800I

c.2398G>A

2 papers

NM_001384950.1

p.S906_N907delins

c.2718_2719delinsCG

3 papers

NM_001384950.1

p.N907D

c.2719A>G