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.E142G

c.425A>G

Surrounding Variants

2 papers

NM_001384950.1

p.Q139*

c.415C>T

1 paper

NM_001384950.1

p.K137R

c.410A>G

2 papers

NM_001384950.1

p.R133Q

c.398G>A

1 paper

NM_001384950.1

p.C127S

c.380G>C

1 paper

NM_001384950.1

p.C127S

c.379T>A

1 paper

NM_001384950.1

p.P123L

c.368C>T

1 paper

NM_001384950.1

p.G119Splc

c.356-3C>G

1 paper

NM_001384950.1

p.L150R

c.449T>G

1 paper

NM_001384950.1

p.R152W

c.454C>T

1 paper

NM_001384950.1

p.T153T

c.459C>T

1 paper

NM_001384950.1

p.Q115H

c.345G>C

1 paper

NM_001384950.1

p.Q115H

c.345G>T