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.Q352R

c.1055A>G

Surrounding Variants

9 papers

NM_005664.4

p.R351fs

c.1051_1052fs

4 papers

NM_005664.4

p.R351_Q352delFs

c.1053_1056del4

1 paper

NM_005664.4

p.R356T

c.1067G>C

1 paper

NM_005664.4

p.R356S

c.1068G>C

1 paper

NM_005664.4

p.R356S

c.1068G>T

1 paper

NM_005664.4

p.W347C

c.1041G>C

1 paper

NM_005664.4

p.W347C

c.1041G>T

6 papers

NM_005664.4

p.I357M

c.1071C>G

1 paper

NM_005664.4

p.V358I

c.1072G>A

1 paper

NM_005664.4

p.R346S

c.1038G>C

1 paper

NM_005664.4

p.R346S

c.1038G>T

2 papers

NM_005664.4

p.K359R

c.1076A>G