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.P640fs

c.1918_1919fs

Surrounding Variants

1 paper

NM_001384950.1

p.P645L

c.1934C>T

1 paper

NM_001384950.1

p.A632T

c.1894G>A

1 paper

NM_001384950.1

p.C648G

c.1942T>G

1 paper

NM_001384950.1

p.A652A

c.1956C>T

1 paper

NM_001384950.1

p.L627P

c.1880T>C

1 paper

NM_001384950.1

p.G671D

c.2012G>A

1 paper

NM_001384950.1

p.P673R

c.2018C>G

1 paper

NM_001384950.1

p.R605L

c.1814G>T

1 paper

NM_001384950.1

p.R605G

c.1813C>G

1 paper

NM_001384950.1

p.Q597*

c.1789C>T

1 paper

NM_001384950.1

p.E689*

c.2065G>T

1 paper

NM_001384950.1

p.G567C

c.1699G>T