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.Q1710H

c.5130G>C

Surrounding Variants

1 paper

NM_001384950.1

p.Q1710H

c.5130G>T

1 paper

NM_001384950.1

p.P1716L

c.5147C>T

1 paper

NM_001384950.1

p.P1696S

c.5086C>T

1 paper

NM_001384950.1

p.A1724V

c.5171C>T

1 paper

NM_001384950.1

p.R1734H

c.5201G>A

1 paper

NM_001384950.1

p.P1740S

c.5218C>T

1 paper

NM_001384950.1

p.S1763N

c.5288G>A

1 paper

NM_001384950.1

p.F1764fs

c.5290_5291fs

1 paper

NM_001384950.1

p.F1764delFs

c.5292delC

1 paper

NM_001384950.1

p.C1767F

c.5300G>T

1 paper

NM_001384950.1

p.A1769D

c.5306C>A

1 paper

NM_001384950.1

p.L1690P

c.5069T>C