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.P166R

c.497C>G

Surrounding Variants

4 papers

NM_031433.4

p.P166L

c.497C>T

5 papers

NM_031433.4

p.P166A

c.496C>G

3 papers

NM_031433.4

p.P166fs

c.496_497fs

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

4 papers

NM_031433.4

p.N167T

c.500A>C

6 papers

NM_031433.4

p.N167fs

c.499_500fs

2 papers

NM_031433.4

p.N167delFs

c.500delT

5 papers

NM_031433.4

p.Y164Y

c.492C>T

1 paper

NM_031433.4

p.Y164fs

c.490_491fs

5 papers

NM_031433.4

p.Y164insFs

c.491_492insT