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_015528.3

p.A13V

c.38C>T

Surrounding Variants

1 paper

NM_015528.3

p.P9R

c.26C>G

1 paper

NM_015528.3

p.F45_G46delFs

c.133_136del4

1 paper

NM_015528.3

p.T48I

c.143C>T

1 paper

NM_015528.3

p.S81*

c.242C>A

1 paper

NM_015528.3

p.S81*

c.242C>G

2 papers

NM_015528.3

p.K97N

c.291G>C

2 papers

NM_015528.3

p.K97N

c.291G>T

4 papers

NM_015528.3

p.V98G

c.293T>G

1 paper

NM_015528.3

p.A104P

c.310G>C

1 paper

NM_015528.3

p.W124*

c.371G>A

1 paper

NM_015528.3

p.W124*

c.372G>A

1 paper

NM_015528.3

p.I133_P136del4

c.397_407del12