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

5 papers

NM_001379081.2

p.G465A

c.1394G>C

Surrounding Variants

1 paper

NM_001379081.2

p.G465V

c.1394G>T

1 paper

NM_001379081.2

p.G465Splc

c.1394-1G>A

1 paper

NM_001379081.2

p.G466E

c.1397G>A

1 paper

NM_001379081.2

p.G466fs

c.1396_1397fs

1 paper

NM_001379081.2

p.L470F

c.1408C>T

1 paper

NM_001379081.2

p.L476L

c.1428C>G

2 papers

NM_001379081.2

p.R482C

c.1444C>T

1 paper

NM_001379081.2

p.S488S

c.1464C>T

4 papers

NM_001379081.2

p.R498Q

c.1493G>A

2 papers

NM_001379081.2

p.I499V

c.1495A>G

1 paper

NM_001379081.2

p.D501D

c.1503T>C

1 paper

NM_001379081.2

p.S505N

c.1514G>A