Varaico: Literature-Extracted Genetic Variants

MKRN1

63 papers

RefSeq Summary

This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiq...

Pfam Domains

zf-CCCH_4aa 59–80UCSCCCCH-type zinc finger

zf-CCCHaa 85–110UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-CCCH_4aa 212–233UCSCCCCH-type zinc finger

zf-C3HC4aa 281–334UCSCZinc finger, C3HC4 type (RING finger)

zf-CCCH_2aa 369–391UCSCRNA-binding, Nab2-type zinc finger

MKRN1_Caa 392–482UCSCE3 ubiquitin-protein ligase makorin, C-terminal

Gene Aliases

HGNC Name

makorin ring finger protein 1

HGNC Alias Symbol

RNF61

Papers

RefSeq ID

Protein change

DNA change

1–12 of 78 variants

3 papers

NM_013446.4

p.V243L

c.727G>C

2 papers

NM_013446.4

p.P30Q

c.89C>A

2 papers

NM_013446.4

p.K57R

c.170A>G

2 papers

NM_013446.4

p.R412R

c.1236G>A

1 paper

NM_013446.4

p.M1L

c.1A>T

1 paper

NM_013446.4

p.T6A

c.16A>G

1 paper

NM_013446.4

p.T22A

c.64A>G

1 paper

NM_013446.4

p.A23V

c.68C>T

1 paper

NM_013446.4

p.A24V

c.71C>T

1 paper

NM_013446.4

p.A26V

c.77C>T

1 paper

NM_013446.4

p.S27P

c.79T>C

1 paper

NM_013446.4

p.S27S

c.81C>T