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.P291fs

c.871_872fs

Surrounding Variants

1 paper

NM_001379081.2

p.I290_N292delFs

c.870_876del7

1 paper

NM_001379081.2

p.Y285C

c.854A>G

1 paper

NM_001379081.2

p.A297fs

c.889_890fs

1 paper

NM_001379081.2

p.K296delFs

c.888delC

2 papers

NM_001379081.2

p.E306_L312ins2

c.916_936dup21

1 paper

NM_001379081.2

p.V319G

c.956T>G

1 paper

NM_001379081.2

p.D325V

c.974A>T

1 paper

NM_001379081.2

p.D325E

c.975T>G

1 paper

NM_001379081.2

p.D325E

c.975T>A

1 paper

NM_001379081.2

p.P328R

c.983C>G

1 paper

NM_001379081.2

p.K329N

c.987A>T

1 paper

NM_001379081.2

p.K329N

c.987A>C