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.P381_P382insFs

c.1143_1144insC

Surrounding Variants

9 papers

NM_031433.4

p.H384fs

c.1150_1151fs

2 papers

NM_031433.4

p.H384P

c.1151A>C

13 papers

NM_031433.4

p.P383insFs

c.1149dupC

1 paper

NM_031433.4

p.H384delFs

c.1150delG

1 paper

NM_031433.4

p.H384Q

c.1152C>G

3 papers

NM_031433.4

p.H384fs

c.1150_1151fs

1 paper

NM_031433.4

p.H384Q

c.1152C>A

1 paper

NM_031433.4

p.S388P

c.1162T>C

1 paper

NM_031433.4

p.V394M

c.1180G>A

1 paper

NM_031433.4

p.T410fs

c.1228_1229fs

1 paper

NM_031433.4

p.Y411H

c.1231T>C

1 paper

NM_031433.4

p.L412P

c.1235T>C