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

3 papers

NM_001384950.1

p.P453L

c.1358C>T

Surrounding Variants

1 paper

NM_001384950.1

p.D479fs

c.1435_1436fs

1 paper

NM_001384950.1

p.P482S

c.1444C>T

1 paper

NM_001384950.1

p.D422Y

c.1264G>T

1 paper

NM_001384950.1

p.P421L

c.1262C>T

1 paper

NM_001384950.1

p.T490insFs

c.1468_1469insCT

1 paper

NM_001384950.1

p.C413G

c.1237T>G

1 paper

NM_001384950.1

p.C409Y

c.1226G>A

1 paper

NM_001384950.1

p.V499I

c.1495G>A

1 paper

NM_001384950.1

p.A407T

c.1219G>A

2 papers

NM_001384950.1

p.C500R

c.1498T>C

1 paper

NM_001384950.1

p.Y510_T513insFs

c.1530_1537dup8

1 paper

NM_001384950.1

p.N396S

c.1187A>G