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.P423S

c.1267C>T

Surrounding Variants

1 paper

NM_005664.4

p.Y422_P423delFs

c.1266_1269del4

1 paper

NM_005664.4

p.E421*

c.1261G>T

20 papers

NM_005664.4

p.H420Q

c.1260T>A

20 papers

NM_005664.4

p.H420Q

c.1260T>G

1 paper

NM_005664.4

p.K419M

c.1256A>T

3 papers

NM_005664.4

p.Y418H

c.1252T>C

2 papers

NM_005664.4

p.F417L

c.1251T>A

2 papers

NM_005664.4

p.F417L

c.1251T>G

20 papers

NM_005664.4

p.F417I

c.1249T>A

2 papers

NM_005664.4

p.F417L

c.1249T>C

3 papers

NM_005664.4

p.G413fs

c.1237_1238fs

1 paper

NM_005664.4

p.F412C

c.1235T>G