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.R507H

c.1520G>A

Surrounding Variants

1 paper

NM_001379081.2

p.R507C

c.1519C>T

1 paper

NM_001379081.2

p.S505N

c.1514G>A

1 paper

NM_001379081.2

p.P511H

c.1532C>A

1 paper

NM_001379081.2

p.D501D

c.1503T>C

1 paper

NM_001379081.2

p.V514I

c.1540G>A

1 paper

NM_001379081.2

p.L515M

c.1543T>A

2 papers

NM_001379081.2

p.I499V

c.1495A>G

4 papers

NM_001379081.2

p.R498Q

c.1493G>A

1 paper

NM_001379081.2

p.P522Q

c.1565C>A

1 paper

NM_001379081.2

p.I525V

c.1573A>G

1 paper

NM_001379081.2

p.S488S

c.1464C>T

1 paper

NM_001379081.2

p.N527D

c.1579A>G