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.G1346S

c.4036G>A

Surrounding Variants

1 paper

NM_001384950.1

p.Q1352H

c.4056G>C

1 paper

NM_001384950.1

p.Q1352H

c.4056G>T

1 paper

NM_001384950.1

p.T1354R

c.4061C>G

1 paper

NM_001384950.1

p.T1354M

c.4061C>T

1 paper

NM_001384950.1

p.R1336W

c.4006C>T

1 paper

NM_001384950.1

p.Q1360*

c.4078C>T

1 paper

NM_001384950.1

p.G1380G

c.4140G>A

1 paper

NM_001384950.1

p.L1381_F1382delFs

c.4142_4145del4

1 paper

NM_001384950.1

p.S1383I

c.4148G>T

1 paper

NM_001384950.1

p.E1311Q

c.3931G>C

1 paper

NM_001384950.1

p.N1307Splc

c.3921-1G>T

1 paper

NM_001384950.1

p.R1300C

c.3898C>T