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.R387fs

c.1159_1160fs

Surrounding Variants

10 papers

NM_016120.4

p.R387C

c.1159C>T

1 paper

NM_016120.4

p.T398A

c.1192A>G

1 paper

NM_016120.4

p.G374R

c.1120G>C

1 paper

NM_016120.4

p.R372W

c.1114C>T

1 paper

NM_016120.4

p.R372G

c.1114C>G

1 paper

NM_016120.4

p.E371K

c.1111G>A

3 papers

NM_016120.4

p.R365C

c.1093C>T

1 paper

NM_016120.4

p.R360*

c.1078C>T

11 papers

NM_016120.4

p.Y356C

c.1067A>G

1 paper

NM_016120.4

p.T355del1

c.1063_1064delGGT

3 papers

NM_016120.4

p.Y421C

c.1262A>G

1 paper

NM_016120.4

p.R346M

c.1037G>T