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.D810E

c.2430C>A

Surrounding Variants

1 paper

NM_001379081.2

p.D810E

c.2430C>G

1 paper

NM_001379081.2

p.R817Q

c.2450G>A

3 papers

NM_001379081.2

p.S803Y

c.2408C>A

1 paper

NM_001379081.2

p.H822H

c.2466C>T

2 papers

NM_001379081.2

p.H822Q

c.2466C>G

2 papers

NM_001379081.2

p.H822Q

c.2466C>A

1 paper

NM_001379081.2

p.E826G

c.2477A>G

1 paper

NM_001379081.2

p.N828K

c.2484T>G

1 paper

NM_001379081.2

p.N828K

c.2484T>A

1 paper

NM_001379081.2

p.F838L

c.2512T>C

1 paper

NM_001379081.2

p.F838L

c.2514T>G

1 paper

NM_001379081.2

p.F838L

c.2514T>A