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

1–12 of 278 variants

27 papers

NM_005664.4

p.C340G

c.1018T>G

26 papers

NM_005664.4

p.R365S

c.1095G>C

26 papers

NM_005664.4

p.R365S

c.1095G>T

25 papers

NM_005664.4

p.A162fs

c.484_485fs

22 papers

NM_005664.4

p.P161insFs

c.482dupC

22 papers

NM_005664.4

p.P161fs

c.481_482fs

20 papers

NM_005664.4

p.F417I

c.1249T>A

20 papers

NM_005664.4

p.H420Q

c.1260T>A

20 papers

NM_005664.4

p.H420Q

c.1260T>G

19 papers

NM_005664.4

p.R328C

c.982C>T

18 papers

NM_005664.4

p.R213fs

c.637_638fs

16 papers

NM_005664.4

p.E111*

c.331G>T