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.Y510_T513insFs

c.1530_1537dup8

Surrounding Variants

2 papers

NM_001384950.1

p.A511V

c.1532C>T

2 papers

NM_001384950.1

p.C500R

c.1498T>C

1 paper

NM_001384950.1

p.V499I

c.1495G>A

1 paper

NM_001384950.1

p.L524P

c.1571T>C

1 paper

NM_001384950.1

p.T490insFs

c.1468_1469insCT

1 paper

NM_001384950.1

p.P482S

c.1444C>T

1 paper

NM_001384950.1

p.Y540C

c.1619A>G

1 paper

NM_001384950.1

p.D479fs

c.1435_1436fs

1 paper

NM_001384950.1

p.W547C

c.1641G>C

1 paper

NM_001384950.1

p.Q549*

c.1645C>T

1 paper

NM_001384950.1

p.R550R

c.1648C>A

1 paper

NM_001384950.1

p.R550W

c.1648C>T