Varaico: Literature-Extracted Genetic Variants

Gene:MFRP

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
1–12 of 237 variants
35 papers
NM_031433.4
p.Y164delFs
c.492delG
22 papers
NM_031433.4
p.P166insFs
c.498dupC
20 papers
NM_031433.4
p.N167fs
c.499_500fs
15 papers
NM_031433.4
p.G58delFs
c.174delC
13 papers
NM_031433.4
p.P383insFs
c.1149dupC
12 papers
NM_031433.4
p.Q175*
c.523C>T
11 papers
NM_031433.4
p.V498_E499insC
c.1492_1496ins3
11 papers
NM_031433.4
p.R517W
c.1549C>T
10 papers
NM_031433.4
p.R539C
c.1615C>T
9 papers
NM_031433.4
p.H384fs
c.1150_1151fs
8 papers
NM_031433.4
p.P381_P382insFs
c.1143_1144insC
8 papers
NM_031433.4
p.E496K
c.1486G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."