Varaico: Literature-Extracted Genetic Variants

Gene:NLRC5
Variant:p.E275K

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.E275K
c.823G>A
Surrounding Variants
1 paper
NM_001384950.1
p.L280M
c.838C>A
1 paper
NM_001384950.1
p.Y281*
c.843C>A
1 paper
NM_001384950.1
p.Y281*
c.843C>G
1 paper
NM_001384950.1
p.P284T
c.850C>A
1 paper
NM_001384950.1
p.L264P
c.791T>C
2 papers
NM_001384950.1
p.R262C
c.784C>T
1 paper
NM_001384950.1
p.H288H
c.864C>T
1 paper
NM_001384950.1
p.D289N
c.865G>A
1 paper
NM_001384950.1
p.E260K
c.778G>A
1 paper
NM_001384950.1
p.F292delFs
c.874delT
1 paper
NM_001384950.1
p.A255_L256ins1
c.765_766insAGG
1 paper
NM_001384950.1
p.A299T
c.895G>A
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