Varaico: Literature-Extracted Genetic Variants

RLIM

108 papers

RefSeq Summary

The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent...

Pfam Domains

RNF6_Naa 17–76UCSCE3 ubiquitin-protein ligase RNF6, N-terminal domain

zf-RING_2aa 568–611UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein, LIM domain interacting

HGNC Alias Symbols

NY-REN-43; MGC15161

Papers

RefSeq ID

Protein change

DNA change

1–12 of 82 variants

11 papers

NM_016120.4

p.Y356C

c.1067A>G

10 papers

NM_016120.4

p.R387C

c.1159C>T

10 papers

NM_016120.4

p.R599C

c.1795C>T

8 papers

NM_016120.4

p.S501L

c.1502C>T

6 papers

NM_016120.4

p.S471P

c.1411T>C

6 papers

NM_016120.4

p.P587R

c.1760C>G

5 papers

NM_016120.4

p.S191*

c.572C>A

5 papers

NM_016120.4

p.S455F

c.1364C>T

5 papers

NM_016120.4

p.R611C

c.1831C>T

4 papers

NM_016120.4

p.Y44C

c.131A>G

4 papers

NM_016120.4

p.G57V

c.170G>T

4 papers

NM_016120.4

p.P77L

c.230C>T