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.S75R

c.225C>G

Surrounding Variants

1 paper

NM_031433.4

p.S75R

c.223A>C

1 paper

NM_031433.4

p.S74P

c.220T>C

1 paper

NM_031433.4

p.L78L

c.234C>A

5 papers

NM_031433.4

p.W67*

c.201G>A

5 papers

NM_031433.4

p.W67*

c.200G>A

1 paper

NM_031433.4

p.A86D

c.257C>A

2 papers

NM_031433.4

p.R64R

c.192C>G

1 paper

NM_031433.4

p.R64H

c.191G>A

1 paper

NM_031433.4

p.R60L

c.179G>T

4 papers

NM_031433.4

p.Q91*

c.271C>T

3 papers

NM_031433.4

p.Q91Splc

c.271+1G>A

1 paper

NM_031433.4

p.R60W

c.178C>T