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.G1681W

c.5041G>T

Surrounding Variants

1 paper

NM_001384950.1

p.Q1688delFs

c.5062delC

1 paper

NM_001384950.1

p.L1674P

c.5021T>C

1 paper

NM_001384950.1

p.L1690P

c.5069T>C

1 paper

NM_001384950.1

p.V1652fs

c.4954_4955fs

1 paper

NM_001384950.1

p.G1650R

c.4948G>A

1 paper

NM_001384950.1

p.G1650R

c.4948G>C

1 paper

NM_001384950.1

p.S1642L

c.4925C>T

1 paper

NM_001384950.1

p.D1640Splc

c.4919+19A>G

1 paper

NM_001384950.1

p.Q1624Q

c.4872G>A

1 paper

NM_001384950.1

p.Q1617*

c.4849C>T

1 paper

NM_001384950.1

p.P1696S

c.5086C>T

1 paper

NM_001384950.1

p.T1606S

c.4817C>G