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

Selected Variant

1 paper

NM_013446.4

p.R396H

c.1187G>A

Surrounding Variants

1 paper

NM_013446.4

p.A391V

c.1172C>T

1 paper

NM_013446.4

p.A391insFs

c.1171_1172insA

1 paper

NM_013446.4

p.G384E

c.1151G>A

1 paper

NM_013446.4

p.R410K

c.1229G>A

1 paper

NM_013446.4

p.R412P

c.1235G>C

2 papers

NM_013446.4

p.R412R

c.1236G>A

1 paper

NM_013446.4

p.R415*

c.1243C>T

1 paper

NM_013446.4

p.E427del1

c.1279_1280delCTC

1 paper

NM_013446.4

p.F432I

c.1294T>A

1 paper

NM_013446.4

p.N434_E436delFs

c.1302_1306del5

1 paper

NM_013446.4

p.L469delins

c.1405_1406delinsTC

1 paper

NM_013446.4

p.L474M

c.1420C>A