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.E1153*

c.3457G>T

Surrounding Variants

1 paper

NM_001384950.1

p.Q1169H

c.3507G>C

1 paper

NM_001384950.1

p.Q1169H

c.3507G>T

1 paper

NM_001384950.1

p.Q1169H

c.3507G>T

1 paper

NM_001384950.1

p.P1177P

c.3531G>A

1 paper

NM_001384950.1

p.K1194R

c.3581A>G

1 paper

NM_001384950.1

p.C1218C

c.3654C>T

1 paper

NM_001384950.1

p.L1227L

c.3681C>T

1 paper

NM_001384950.1

p.C1134Y

c.3401G>A

3 papers

NM_001384950.1

p.Q1105K

c.3313C>A

1 paper

NM_001384950.1

p.G1256G

c.3768C>T

4 papers

NM_001384950.1

p.D1257N

c.3769G>A

1 paper

NM_001384950.1

p.Q1269*

c.3805C>T