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

1–12 of 58 variants

4 papers

NM_014160.5

p.A251V

c.752C>T

3 papers

NM_014160.5

p.T3I

c.8C>T

3 papers

NM_014160.5

p.R50W

c.148C>T

1 paper

NM_014160.5

p.Q5*

c.13C>T

1 paper

NM_014160.5

p.Y10C

c.29A>G

1 paper

NM_014160.5

p.G14S

c.40G>A

1 paper

NM_014160.5

p.C16fs

c.46_47fs

1 paper

NM_014160.5

p.R17insFs

c.49dupC

1 paper

NM_014160.5

p.D27E

c.81C>A

1 paper

NM_014160.5

p.D27E

c.81C>G

1 paper

NM_014160.5

p.D27D

c.81C>T

1 paper

NM_014160.5

p.A29G

c.86C>G