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

1–12 of 39 variants

5 papers

NM_017831.4

p.M112I

c.336G>A

5 papers

NM_017831.4

p.M112I

c.336G>C

5 papers

NM_017831.4

p.M112I

c.336G>T

5 papers

NM_017831.4

p.R174C

c.520C>T

3 papers

NM_017831.4

p.D124G

c.371A>G

3 papers

NM_017831.4

p.S163L

c.488C>T

2 papers

NM_017831.4

p.R49P

c.146G>C

2 papers

NM_017831.4

p.I61F

c.181A>T

2 papers

NM_017831.4

p.R190S

c.570A>C

2 papers

NM_017831.4

p.R190S

c.570A>T

1 paper

NM_017831.4

p.S16C

c.47C>G

1 paper

NM_017831.4

p.E23A

c.68A>C