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

2 papers

NM_001379081.2

p.Y674*

c.2022T>G

Surrounding Variants

2 papers

NM_001379081.2

p.Y674*

c.2022T>A

1 paper

NM_001379081.2

p.E672D

c.2016A>T

1 paper

NM_001379081.2

p.E672D

c.2016A>C

2 papers

NM_001379081.2

p.V679L

c.2035G>C

1 paper

NM_001379081.2

p.D670N

c.2008G>A

1 paper

NM_001379081.2

p.F668fs

c.2002_2003fs

1 paper

NM_001379081.2

p.F668S

c.2003T>C

1 paper

NM_001379081.2

p.I682V

c.2044A>G

1 paper

NM_001379081.2

p.F687L

c.2059T>C

1 paper

NM_001379081.2

p.F687L

c.2061T>G

1 paper

NM_001379081.2

p.F687L

c.2061T>A

1 paper

NM_001379081.2

p.S691S

c.2073C>T