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.K1799T

c.5396A>C

Surrounding Variants

1 paper

NM_001384950.1

p.R1800K

c.5399G>A

1 paper

NM_001384950.1

p.R1797Q

c.5390G>A

1 paper

NM_001384950.1

p.R1797W

c.5389C>T

1 paper

NM_001384950.1

p.G1796D

c.5387G>A

1 paper

NM_001384950.1

p.L1811fs

c.5431_5432fs

3 papers

NM_001384950.1

p.G1823R

c.5467G>A

3 papers

NM_001384950.1

p.G1823R

c.5467G>C

1 paper

NM_001384950.1

p.R1830Splc

c.5489+1G>A

1 paper

NM_001384950.1

p.L1844R

c.5531T>G

1 paper

NM_001384950.1

p.A1769D

c.5306C>A

1 paper

NM_001384950.1

p.C1767F

c.5300G>T

1 paper

NM_001384950.1

p.F1764delFs

c.5292delC