Varaico: Literature-Extracted Genetic Variants

NLRP3

1,456 papers

RefSeq Summary

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated sp...

Pfam Domains

PYRINaa 7–83UCSCPAAD/DAPIN/Pyrin domain

FISNAaa 138–208UCSCFish-specific NACHT associated domain

NACHTaa 218–387UCSCNACHT domain

WHD_NOD2aa 462–518UCSCNOD2 winged helix domain

NLRC4_HD2aa 520–643UCSCNLRC4 helical domain HD2

LRR_6aa 737–760UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 3

HGNC Previous Symbols

CIAS1; DFNA34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_001243133.2

p.D303G

c.908A>G

Surrounding Variants

10 papers

NM_001243133.2

p.D303A

c.908A>C

NM_004895.5

p.D305A

c.914A>C

124 papers

NM_004895.5

p.D305N

c.913G>A

NM_001243133.2

p.D303N

c.907G>A

20 papers

NM_001243133.2

p.D303H

c.907G>C

NM_004895.5

p.D305H

c.913G>C

5 papers

NM_001243133.2

p.F302L

c.906C>A

NM_004895.5

p.F304L

c.912C>A

4 papers

NM_004895.5

p.F304L

c.912C>G

NM_001243133.2

p.F302L

c.906C>G

17 papers

NM_004895.5

p.E306K

c.916G>A

NM_001243133.2

p.E304K

c.910G>A

1 paper

NM_004895.5

p.F304C

c.911T>G

NM_001243133.2

p.F302C

c.905T>G

3 papers

NM_004895.5

p.E306D

c.918G>C

NM_001243133.2

p.E304D

c.912G>C

3 papers

NM_004895.5

p.E306D

c.918G>T

NM_001243133.2

p.E304D

c.912G>T

4 papers

NM_004895.5

p.F304L

c.910T>C

NM_001243133.2

p.F302L

c.904T>C

1 paper

NM_001243133.2

p.L305M

c.913C>A

1 paper

NM_001243133.2

p.L305V

c.913C>G