Varaico: Literature-Extracted Genetic Variants

PELI3

36 papers

RefSeq Summary

The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from T...

Pfam Domains

Pellino_FHAaa 72–321UCSCPellino, FHA domain

Pellino_RINGaa 325–469UCSCPellino, RING domain

Gene Aliases

HGNC Name

pellino E3 ubiquitin protein ligase family member 3

HGNC Alias Symbol

MGC35521

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145065.3

p.S169C

c.506C>G

Surrounding Variants

1 paper

NM_145065.3

p.Q181H

c.543G>C

1 paper

NM_145065.3

p.Q181H

c.543G>T

1 paper

NM_145065.3

p.R196Q

c.587G>A

1 paper

NM_145065.3

p.T200I

c.599C>T

1 paper

NM_145065.3

p.D209D

c.627T>C

1 paper

NM_145065.3

p.A210T

c.628G>A

2 papers

NM_145065.3

p.R219*

c.655C>T

1 paper

NM_145065.3

p.K222R

c.665A>G

1 paper

NM_145065.3

p.K279R

c.836A>G

1 paper

NM_145065.3

p.H136Y

c.406C>T

1 paper

NM_145065.3

p.I128I

c.384C>A

1 paper

NM_145065.3

p.Q125H

c.375G>C