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.A547G

c.1640C>G

Surrounding Variants

1 paper

NM_001379081.2

p.R546L

c.1637G>T

1 paper

NM_001379081.2

p.S543F

c.1628C>T

1 paper

NM_001379081.2

p.G542*

c.1624G>T

1 paper

NM_001379081.2

p.L539P

c.1616T>C

1 paper

NM_001379081.2

p.I561delFs

c.1681_1682delAT

1 paper

NM_001379081.2

p.L532P

c.1595T>C

1 paper

NM_001379081.2

p.K563*

c.1687A>T

1 paper

NM_001379081.2

p.N527D

c.1579A>G

1 paper

NM_001379081.2

p.I525V

c.1573A>G

1 paper

NM_001379081.2

p.P522Q

c.1565C>A

1 paper

NM_001379081.2

p.G575E

c.1724G>A

1 paper

NM_001379081.2

p.P576A

c.1726C>G