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

1–12 of 35 variants

8 papers

NM_145065.3

p.A307V

c.920C>T

4 papers

NM_145065.3

p.E39Q

c.115G>C

2 papers

NM_145065.3

p.R219*

c.655C>T

1 paper

NM_145065.3

p.E8A

c.23A>C

1 paper

NM_145065.3

p.K23R

c.68A>G

1 paper

NM_145065.3

p.E39*

c.115G>T

1 paper

NM_145065.3

p.K43R

c.128A>G

1 paper

NM_145065.3

p.L47F

c.139C>T

1 paper

NM_145065.3

p.G51E

c.152G>A

1 paper

NM_145065.3

p.E55K

c.163G>A

1 paper

NM_145065.3

p.P70P

c.210A>T

1 paper

NM_145065.3

p.C79Y

c.236G>A