Varaico: Literature-Extracted Genetic Variants

MFRP

186 papers

RefSeq Summary

This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, po...

Pfam Domains

CUBaa 144–250UCSCCUB domain

Ldl_recept_aaa 258–294UCSCLow-density lipoprotein receptor domain class A

CUBaa 301–411UCSCCUB domain

Fzaa 466–571UCSCFz domain

Gene Aliases

HGNC Name

membrane frizzled-related protein

HGNC Alias Symbols

FLJ30570; rd6; NNO2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031433.4

p.S193C

c.577A>T

Surrounding Variants

2 papers

NM_031433.4

p.E187_E192del0

c.561_575del15

1 paper

NM_031433.4

p.S193fs

c.577_578fs

1 paper

NM_031433.4

p.S193delFs

c.577_578delCT

2 papers

NM_031433.4

p.E192Q

c.574G>C

1 paper

NM_031433.4

p.I191K

c.572T>A

1 paper

NM_031433.4

p.A188T

c.562G>A

1 paper

NM_031433.4

p.A188fs

c.562_563fs

1 paper

NM_031433.4

p.E187E

c.561A>G

2 papers

NM_031433.4

p.E187K

c.559G>A

1 paper

NM_031433.4

p.R201L

c.602G>T

1 paper

NM_031433.4

p.R201H

c.602G>A

1 paper

NM_031433.4

p.Q183Q

c.549G>A