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.L348P

c.1043T>C

Surrounding Variants

1 paper

NM_001379081.2

p.T352S

c.1054A>T

1 paper

NM_001379081.2

p.T352S

c.1055C>G

1 paper

NM_001379081.2

p.F358V

c.1072T>G

1 paper

NM_001379081.2

p.T359S

c.1075A>T

1 paper

NM_001379081.2

p.I336F

c.1006A>T

1 paper

NM_001379081.2

p.K361R

c.1082A>G

1 paper

NM_001379081.2

p.N335S

c.1004A>G

1 paper

NM_001379081.2

p.K329N

c.987A>T

1 paper

NM_001379081.2

p.K329N

c.987A>C

1 paper

NM_001379081.2

p.P328R

c.983C>G

1 paper

NM_001379081.2

p.D325E

c.975T>G

1 paper

NM_001379081.2

p.D325E

c.975T>A