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

2 papers

NM_001379081.2

p.R1292C

c.3874C>T

Surrounding Variants

1 paper

NM_001379081.2

p.G1289V

c.3866G>T

1 paper

NM_001379081.2

p.M1286R

c.3857T>G

1 paper

NM_001379081.2

p.I1302V

c.3904A>G

1 paper

NM_001379081.2

p.E1309K

c.3925G>A

1 paper

NM_001379081.2

p.I1311T

c.3932T>C

2 papers

NM_001379081.2

p.Y1313*

c.3939T>G

2 papers

NM_001379081.2

p.Y1313*

c.3939T>A

7 papers

NM_001379081.2

p.L1324R

c.3971T>G

1 paper

NM_001379081.2

p.P1334R

c.4001C>G

2 papers

NM_001379081.2

p.C1341W

c.4023C>G

1 paper

NM_001379081.2

p.Q1343R

c.4028A>G

1 paper

NM_001379081.2

p.W1372*

c.4115G>A