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

8 papers

NM_031433.4

p.E496K

c.1486G>A

Surrounding Variants

1 paper

NM_031433.4

p.E496*

c.1486G>T

11 papers

NM_031433.4

p.V498_E499insC

c.1492_1496ins3

1 paper

NM_031433.4

p.V498A

c.1493T>C

1 paper

NM_031433.4

p.V500V

c.1500C>G

3 papers

NM_031433.4

p.M491_I492insT

c.1471_1475ins3

1 paper

NM_031433.4

p.T482_A483insTA

c.1444_1448ins6

3 papers

NM_031433.4

p.Y479*

c.1437C>G

3 papers

NM_031433.4

p.Y479*

c.1437C>A

1 paper

NM_031433.4

p.Y479delins

c.1435_1437delinsCAA

3 papers

NM_031433.4

p.V471M

c.1411G>A

1 paper

NM_031433.4

p.C466W

c.1398T>G

2 papers

NM_031433.4

p.S506fs

c.1516_1517fs