Varaico: Literature-Extracted Genetic Variants

MKRN2

37 papers

RefSeq Summary

This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia...

Pfam Domains

zf-CCCH_2aa 8–26UCSCRNA-binding, Nab2-type zinc finger

zf-CCCHaa 33–57UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-CCCHaa 167–191UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-CCCH_2aa 326–348UCSCRNA-binding, Nab2-type zinc finger

Gene Aliases

HGNC Name

makorin ring finger protein 2

HGNC Alias Symbols

RNF62; HSPC070

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014160.5

p.Q231*

c.691C>T

Surrounding Variants

1 paper

NM_014160.5

p.Q231E

c.691C>G

1 paper

NM_014160.5

p.S233G

c.697A>G

1 paper

NM_014160.5

p.F228insFs

c.683_684insA

1 paper

NM_014160.5

p.K226T

c.677A>C

1 paper

NM_014160.5

p.E225_K226insFs

c.675_676insA

1 paper

NM_014160.5

p.M224T

c.671T>C

4 papers

NM_014160.5

p.A251V

c.752C>T

1 paper

NM_014160.5

p.S252C

c.755C>G

1 paper

NM_014160.5

p.C262S

c.784T>A

1 paper

NM_014160.5

p.C262S

c.785G>C

1 paper

NM_014160.5

p.H264Q

c.792C>A

1 paper

NM_014160.5

p.H264Q

c.792C>G