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

6 papers

NM_005664.4

p.C410Y

c.1229G>A

Surrounding Variants

1 paper

NM_005664.4

p.C410delins

c.1229_1230delinsAA

9 papers

NM_005664.4

p.C410*

c.1230C>A

1 paper

NM_005664.4

p.P411Q

c.1232C>A

3 papers

NM_005664.4

p.N409fs

c.1225_1226fs

2 papers

NM_005664.4

p.G413_Y418delFs

c.1237_1252del16

1 paper

NM_005664.4

p.G408_C410delFs

c.1224_1228del5

1 paper

NM_005664.4

p.F412C

c.1235T>G

3 papers

NM_005664.4

p.G413fs

c.1237_1238fs

1 paper

NM_005664.4

p.R407G

c.1219A>G

1 paper

NM_005664.4

p.R407fs

c.1219_1220fs

1 paper

NM_005664.4

p.R407delFs

c.1219delA

1 paper

NM_005664.4

p.E405fs

c.1213_1214fs