Varaico: Literature-Extracted Genetic Variants

RNF167

28 papers

RefSeq Summary

RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed ...

Pfam Domains

PAaa 54–148UCSCPA domain

zf-RING_2aa 228–272UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 167

HGNC Alias Symbol

DKFZP566H073

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001320365.2

p.C233S

c.697T>A

Surrounding Variants

3 papers

NM_015528.3

p.C268R

c.802T>C

1 paper

NM_001320365.2

p.C233S

c.698G>C

1 paper

NM_015528.3

p.R265G

c.793C>G

1 paper

NM_015528.3

p.Q273K

c.817C>A

1 paper

NM_015528.3

p.G278insFs

c.833dupG

2 papers

NM_015528.3

p.R277L

c.830G>T

1 paper

NM_015528.3

p.P279fs

c.835_836fs

1 paper

NM_015528.3

p.P309L

c.926C>T

1 paper

NM_015528.3

p.G322delFs

c.964delG

1 paper

NM_015528.3

p.D239G

c.716A>G

1 paper

NM_015528.3

p.G322fs

c.964_965fs

3 papers

NM_015528.3

p.C233S

c.698G>C