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

2 papers

NM_015528.3

p.G224A

c.671G>C

Surrounding Variants

1 paper

NM_015528.3

p.Q222*

c.664C>T

1 paper

NM_015528.3

p.Q204R

c.611A>G

1 paper

NM_015528.3

p.R200Q

c.599G>A

1 paper

NM_015528.3

p.R200W

c.598C>T

1 paper

NM_015528.3

p.R195G

c.583C>G

1 paper

NM_015528.3

p.A187V

c.560C>T

1 paper

NM_015528.3

p.V163L

c.487G>C

1 paper

NM_015528.3

p.I133_P136del4

c.397_407del12

1 paper

NM_015528.3

p.W124*

c.372G>A

1 paper

NM_015528.3

p.W124*

c.371G>A

1 paper

NM_015528.3

p.A104P

c.310G>C

4 papers

NM_015528.3

p.V98G

c.293T>G