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.K210_A217Fs

c.630_650delinsGCTGGGCFs

Surrounding Variants

1 paper

NM_013446.4

p.C214W

c.642C>G

1 paper

NM_013446.4

p.C214S

c.641G>C

1 paper

NM_013446.4

p.C214S

c.640T>A

1 paper

NM_013446.4

p.L213delFs

c.637delG

1 paper

NM_013446.4

p.R223Q

c.668G>A

1 paper

NM_013446.4

p.G225_E226insFs

c.675_676insA

1 paper

NM_013446.4

p.E226A

c.677A>C

1 paper

NM_013446.4

p.A206T

c.616G>A

1 paper

NM_013446.4

p.C228insFs

c.683_684insA

1 paper

NM_013446.4

p.E203K

c.607G>A

1 paper

NM_013446.4

p.G233*

c.697G>T

1 paper

NM_013446.4

p.K197Q

c.589A>C