Varaico: Literature-Extracted Genetic Variants

RNF125

28 papers

RefSeq Summary

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoy...

Pfam Domains

zf-C3HC4_2aa 36–75UCSCZinc finger, C3HC4 type (RING finger)

zf_C2HC_14aa 94–126UCSCC2HC Zing finger domain

zf-Di19aa 137–197UCSCDrought induced 19 protein (Di19), zinc-binding

Gene Aliases

HGNC Name

ring finger protein 125

HGNC Alias Symbol

FLJ20456

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_017831.4

p.M112I

c.336G>C

Surrounding Variants

5 papers

NM_017831.4

p.M112I

c.336G>A

5 papers

NM_017831.4

p.M112I

c.336G>T

1 paper

NM_017831.4

p.C119Y

c.356G>A

1 paper

NM_017831.4

p.Y122F

c.365A>T

3 papers

NM_017831.4

p.D124G

c.371A>G

1 paper

NM_017831.4

p.V140_C141delFs

c.420_423del4

1 paper

NM_017831.4

p.C141fs

c.421_422fs

1 paper

NM_017831.4

p.Y149D

c.445T>G

1 paper

NM_017831.4

p.I158V

c.472A>G

3 papers

NM_017831.4

p.S163L

c.488C>T

1 paper

NM_017831.4

p.R165W

c.493C>T

1 paper

NM_017831.4

p.R165Q

c.494G>A