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

6 papers

NM_005664.4

p.R328H

c.983G>A

Surrounding Variants

1 paper

NM_005664.4

p.R328S

c.982C>A

19 papers

NM_005664.4

p.R328C

c.982C>T

1 paper

NM_005664.4

p.R327H

c.980G>A

1 paper

NM_005664.4

p.R327L

c.980G>T

2 papers

NM_005664.4

p.R327C

c.979C>T

1 paper

NM_005664.4

p.G330A

c.989G>C

1 paper

NM_005664.4

p.S333Y

c.998C>A

1 paper

NM_005664.4

p.A322T

c.964G>A

1 paper

NM_005664.4

p.C335Y

c.1004G>A

27 papers

NM_005664.4

p.C340G

c.1018T>G

1 paper

NM_005664.4

p.E316K

c.946G>A

1 paper

NM_005664.4

p.M315L

c.943A>C