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

3 papers

NM_005664.4

p.R90*

c.268C>T

Surrounding Variants

1 paper

NM_005664.4

p.R90R

c.268C>A

1 paper

NM_005664.4

p.S89S

c.267C>T

1 paper

NM_005664.4

p.S89N

c.266G>A

1 paper

NM_005664.4

p.S92_G93delFs

c.276_277delCG

1 paper

NM_005664.4

p.S92S

c.276C>T

5 papers

NM_005664.4

p.G93S

c.277G>A

1 paper

NM_005664.4

p.P86L

c.257C>T

1 paper

NM_005664.4

p.W95R

c.283T>A

1 paper

NM_005664.4

p.Q98E

c.292C>G

1 paper

NM_005664.4

p.I99F

c.295A>T

6 papers

NM_005664.4

p.I100F

c.298A>T

1 paper

NM_005664.4

p.S78L

c.233C>T