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.Y117N

c.349T>A

Surrounding Variants

2 papers

NM_005664.4

p.Y117C

c.350A>G

1 paper

NM_005664.4

p.R116G

c.346C>G

1 paper

NM_005664.4

p.S118L

c.353C>T

3 papers

NM_005664.4

p.C115S

c.344G>C

1 paper

NM_005664.4

p.C115F

c.344G>T

3 papers

NM_005664.4

p.C115S

c.343T>A

1 paper

NM_005664.4

p.H119Q

c.357C>G

1 paper

NM_005664.4

p.G112G

c.336G>A

1 paper

NM_005664.4

p.S122C

c.365C>G

1 paper

NM_005664.4

p.E111K

c.331G>A

16 papers

NM_005664.4

p.E111*

c.331G>T

1 paper

NM_005664.4

p.K110K

c.330G>A