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.V217Fs

c.650delinsGCTGGGCCFs

Surrounding Variants

1 paper

NM_005664.4

p.W216L

c.647G>T

1 paper

NM_005664.4

p.R215R

c.645C>G

1 paper

NM_005664.4

p.R213G

c.637C>G

3 papers

NM_005664.4

p.P221P

c.663C>T

1 paper

NM_005664.4

p.R213W

c.637C>T

18 papers

NM_005664.4

p.R213fs

c.637_638fs

12 papers

NM_005664.4

p.Y212delFs

c.636delC

1 paper

NM_005664.4

p.Q210_V217delins

c.630_650delinsGCTGGC

3 papers

NM_005664.4

p.Q210_V217Fs

c.630_650delinsGCTGGGCFs

7 papers

NM_005664.4

p.P211fs

c.631_632fs

1 paper

NM_005664.4

p.Q210_V217del0

c.630_650del21

5 papers

NM_005664.4

p.L225V

c.673C>G