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.M297T

c.890T>C

Surrounding Variants

2 papers

NM_005664.4

p.M297R

c.890T>G

6 papers

NM_005664.4

p.E298*

c.892G>T

1 paper

NM_005664.4

p.D296N

c.886G>A

1 paper

NM_005664.4

p.S300W

c.899C>G

3 papers

NM_005664.4

p.A302V

c.905C>T

1 paper

NM_005664.4

p.V303M

c.907G>A

1 paper

NM_005664.4

p.Q304*

c.910C>T

1 paper

NM_005664.4

p.I290I

c.870T>C

1 paper

NM_005664.4

p.A288fs

c.862_863fs

1 paper

NM_005664.4

p.R287S

c.861G>C

1 paper

NM_005664.4

p.R287S

c.861G>T

2 papers

NM_005664.4

p.R287delFs

c.860delG