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

12 papers

NM_031433.4

p.Q175*

c.523C>T

Surrounding Variants

1 paper

NM_031433.4

p.V176G

c.527T>G

2 papers

NM_031433.4

p.H180H

c.540T>C

7 papers

NM_031433.4

p.I182T

c.545T>C

6 papers

NM_031433.4

p.N167fs

c.499_500fs

2 papers

NM_031433.4

p.N167delFs

c.500delT

4 papers

NM_031433.4

p.N167T

c.500A>C

20 papers

NM_031433.4

p.N167fs

c.499_500fs

22 papers

NM_031433.4

p.P166insFs

c.498dupC

35 papers

NM_031433.4

p.Y164delFs

c.492delG

3 papers

NM_031433.4

p.P166fs

c.496_497fs

1 paper

NM_031433.4

p.Q183Q

c.549G>A

4 papers

NM_031433.4

p.P166L

c.497C>T