Varaico: Literature-Extracted Genetic Variants

MARF1

65 papers

RefSeq Summary

This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010].

Pfam Domains

NYNaa 352–493UCSCNYN domain

RRM_MARF1aa 510–594UCSCMARF1, RNA recognition motif 1

RRM_1aa 793–864UCSCRNA recognition motif

MARF1_LOTUSaa 878–1088UCSCMARF1 LOTUS domain

OST-HTHaa 1098–1169UCSCOST-HTH/LOTUS domain

OST-HTHaa 1258–1329UCSCOST-HTH/LOTUS domain

Gene Aliases

HGNC Name

meiosis regulator and mRNA stability factor 1

HGNC Previous Symbol

KIAA0430

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

5 papers

NM_014647.4

p.G4R

c.10G>C

5 papers

NM_014647.4

p.G4R

c.10G>A

2 papers

NM_014647.4

p.G117del1

c.349_350delACC

1 paper

NM_014647.4

p.P46L

c.137C>T

1 paper

NM_014647.4

p.R84H

c.251G>A

1 paper

NM_014647.4

p.Q87*

c.259C>T

1 paper

NM_014647.4

p.M114L

c.340A>T

1 paper

NM_014647.4

p.M114L

c.340A>C

1 paper

NM_014647.4

p.G125insFs

c.373dupG

1 paper

NM_014647.4

p.S140_T141insFs

c.420_421ins23

1 paper

NM_014647.4

p.T145M

c.434C>T

1 paper

NM_014647.4

p.A221T

c.661G>A