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

1–12 of 204 variants

5 papers

NM_001384950.1

p.P191L

c.572C>T

4 papers

NM_001384950.1

p.D1257N

c.3769G>A

3 papers

NM_001384950.1

p.P453L

c.1358C>T

3 papers

NM_001384950.1

p.N907D

c.2719A>G

3 papers

NM_001384950.1

p.Q1105K

c.3313C>A

3 papers

NM_001384950.1

p.G1823R

c.5467G>A

3 papers

NM_001384950.1

p.G1823R

c.5467G>C

2 papers

NM_001384950.1

p.R133Q

c.398G>A

2 papers

NM_001384950.1

p.Q139*

c.415C>T

2 papers

NM_001384950.1

p.A155T

c.463G>A

2 papers

NM_001384950.1

p.S210L

c.629C>T

2 papers

NM_001384950.1

p.R262C

c.784C>T