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

10 papers

NM_031433.4

p.R539C

c.1615C>T

Surrounding Variants

2 papers

NM_031433.4

p.R539H

c.1616G>A

1 paper

NM_031433.4

p.C538fs

c.1612_1613fs

2 papers

NM_031433.4

p.V541A

c.1622T>C

1 paper

NM_031433.4

p.V541fs

c.1621_1622fs

3 papers

NM_031433.4

p.V541_C542delFs

c.1622_1625del4

2 papers

NM_031433.4

p.C521G

c.1561T>G

1 paper

NM_031433.4

p.R518W

c.1552A>T

11 papers

NM_031433.4

p.R517W

c.1549C>T

2 papers

NM_031433.4

p.Q514H

c.1542G>T

2 papers

NM_031433.4

p.Q514H

c.1542G>C

1 paper

NM_031433.4

p.C512G

c.1534T>G

1 paper

NM_031433.4

p.A570V

c.1709C>T