Varaico: Literature-Extracted Genetic Variants

MKRN3

155 papers

RefSeq Summary

The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Dis...

Pfam Domains

zf-CCCH_4aa 99–120UCSCCCCH-type zinc finger

zf-CCCH_2aa 244–263UCSCRNA-binding, Nab2-type zinc finger

zf-C3HC4aa 311–364UCSCZinc finger, C3HC4 type (RING finger)

zf-CCCH_2aa 399–420UCSCRNA-binding, Nab2-type zinc finger

MKRN1_Caa 422–507UCSCE3 ubiquitin-protein ligase makorin, C-terminal

Gene Aliases

HGNC Name

makorin ring finger protein 3

HGNC Previous Symbols

ZNF127; D15S9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005664.4

p.A174S

c.520G>T

Surrounding Variants

1 paper

NM_005664.4

p.G172C

c.514G>T

1 paper

NM_005664.4

p.P169fs

c.505_506fs

1 paper

NM_005664.4

p.S167F

c.500C>T

1 paper

NM_005664.4

p.E183*

c.547G>T

1 paper

NM_005664.4

p.S164S

c.492C>G

1 paper

NM_005664.4

p.D185_N186delFs

c.555_556delCA

1 paper

NM_005664.4

p.D185fs

c.553_554fs

25 papers

NM_005664.4

p.A162fs

c.484_485fs

1 paper

NM_005664.4

p.P161_A162insFs

c.483_484insC

1 paper

NM_005664.4

p.P161R

c.482C>G

1 paper

NM_005664.4

p.P161L

c.482C>T

22 papers

NM_005664.4

p.P161fs

c.481_482fs