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

7 papers

NM_005664.4

p.E380K

c.1138G>A

Surrounding Variants

1 paper

NM_005664.4

p.Q385*

c.1153C>T

9 papers

NM_005664.4

p.P373L

c.1118C>T

1 paper

NM_005664.4

p.Y391H

c.1171T>C

9 papers

NM_005664.4

p.Y391insFs

c.1171_1172insA

1 paper

NM_005664.4

p.Y391fs

c.1171_1172fs

10 papers

NM_005664.4

p.Y391*

c.1173C>A

10 papers

NM_005664.4

p.Y391*

c.1173C>G

2 papers

NM_005664.4

p.S368C

c.1103C>G

26 papers

NM_005664.4

p.R365S

c.1095G>C

26 papers

NM_005664.4

p.R365S

c.1095G>T

2 papers

NM_005664.4

p.C364S

c.1091G>C

1 paper

NM_005664.4

p.C364F

c.1091G>T