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

7 papers

NM_005664.4

p.L225_Q226insFs

c.675_676insA

Surrounding Variants

5 papers

NM_005664.4

p.L225V

c.673C>G

1 paper

NM_005664.4

p.Q226insFs

c.676_677insA

14 papers

NM_005664.4

p.Q226fs

c.676_677fs

7 papers

NM_005664.4

p.Q226P

c.677A>C

1 paper

NM_005664.4

p.Q226L

c.677A>T

1 paper

NM_005664.4

p.S228delFs

c.683_684delCA

1 paper

NM_005664.4

p.S228*

c.683C>A

7 papers

NM_005664.4

p.S228_E229insFs

c.684_685insA

1 paper

NM_005664.4

p.S228*

c.683C>G

3 papers

NM_005664.4

p.P221P

c.663C>T

5 papers

NM_005664.4

p.E229fs

c.685_686fs

1 paper

NM_005664.4

p.T230fs

c.688_689fs