Varaico: Literature-Extracted Genetic Variants

FREM1

224 papers

RefSeq Summary

This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and rena...

Pfam Domains

Frem_Naa 25–264UCSCFrem protein N-terminal domain

Cadherin_3aa 299–406UCSCCadherin-like

Cadherin_3aa 414–514UCSCCadherin-like

Gene Aliases

HGNC Name

FRAS1 related extracellular matrix 1

HGNC Previous Symbol

C9orf154

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001379081.2

p.S417F

c.1250C>T

Surrounding Variants

1 paper

NM_001379081.2

p.W418C

c.1254G>T

1 paper

NM_001379081.2

p.V416L

c.1246G>T

2 papers

NM_001379081.2

p.V416L

c.1246G>C

1 paper

NM_001379081.2

p.R415fs

c.1243_1244fs

1 paper

NM_001379081.2

p.R415delFs

c.1244delC

1 paper

NM_001379081.2

p.A398T

c.1192G>A

1 paper

NM_001379081.2

p.D391G

c.1172A>G

2 papers

NM_001379081.2

p.E386A

c.1157A>C

1 paper

NM_001379081.2

p.G421D

c.1262G>A

1 paper

NM_001379081.2

p.S429P

c.1285T>C

1 paper

NM_001379081.2

p.D383D

c.1149T>C

2 papers

NM_001379081.2

p.R430*

c.1288C>T