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

Selected Variant

1 paper

NM_016120.4

p.A516fs

c.1546_1547fs

Surrounding Variants

8 papers

NM_016120.4

p.S501L

c.1502C>T

4 papers

NM_016120.4

p.S485S

c.1455T>C

1 paper

NM_016120.4

p.G482C

c.1444G>T

1 paper

NM_016120.4

p.S476_P477ins6

c.1428_1429ins18

1 paper

NM_016120.4

p.S471_S476ins2

c.1411_1428dup18

2 papers

NM_016120.4

p.M558I

c.1674G>T

2 papers

NM_016120.4

p.M558I

c.1674G>C

2 papers

NM_016120.4

p.M558I

c.1674G>A

6 papers

NM_016120.4

p.S471P

c.1411T>C

3 papers

NM_016120.4

p.S463S

c.1389C>A

1 paper

NM_016120.4

p.S459S

c.1377G>A

1 paper

NM_016120.4

p.I574N

c.1721T>A