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.A23V

c.68C>T

Surrounding Variants

1 paper

NM_005664.4

p.A22fs

c.64_65fs

1 paper

NM_005664.4

p.G29W

c.85G>T

1 paper

NM_005664.4

p.P30S

c.88C>T

9 papers

NM_005664.4

p.P30L

c.89C>T

1 paper

NM_005664.4

p.A14D

c.41C>A

1 paper

NM_005664.4

p.V34F

c.100G>T

1 paper

NM_005664.4

p.E12K

c.34G>A

1 paper

NM_005664.4

p.E36D

c.108G>C

1 paper

NM_005664.4

p.E36D

c.108G>T

1 paper

NM_005664.4

p.P37P

c.111C>T

1 paper

NM_005664.4

p.S8S

c.24A>T

1 paper

NM_005664.4

p.S38Y

c.113C>A