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.R341W

c.1021C>T

Surrounding Variants

1 paper

NM_001384950.1

p.G339D

c.1016G>A

1 paper

NM_001384950.1

p.R347H

c.1040G>A

1 paper

NM_001384950.1

p.G334R

c.1000G>A

1 paper

NM_001384950.1

p.G334R

c.1000G>C

1 paper

NM_001384950.1

p.P356_A357delFs

c.1067_1070del4

1 paper

NM_001384950.1

p.L351M

c.1051C>A

1 paper

NM_001384950.1

p.P356fs

c.1066_1067fs

1 paper

NM_001384950.1

p.H363Q

c.1089C>A

1 paper

NM_001384950.1

p.H363Q

c.1089C>G

1 paper

NM_001384950.1

p.L313P

c.938T>C

2 papers

NM_001384950.1

p.R371W

c.1111C>T

1 paper

NM_001384950.1

p.A299T

c.895G>A