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.E1443K

c.4327G>A

Surrounding Variants

8 papers

NM_001379081.2

p.G1440S

c.4318G>A

3 papers

NM_001379081.2

p.R1438*

c.4312C>T

1 paper

NM_001379081.2

p.P1448H

c.4343C>A

1 paper

NM_001379081.2

p.G1449E

c.4346G>A

1 paper

NM_001379081.2

p.V1461G

c.4382T>G

2 papers

NM_001379081.2

p.T1415S

c.4244C>G

2 papers

NM_001379081.2

p.T1415S

c.4243A>T

1 paper

NM_001379081.2

p.T1474I

c.4421C>T

1 paper

NM_001379081.2

p.K1392fs

c.4174_4175fs

1 paper

NM_001379081.2

p.I1387delins

c.4159_4161delinsTTA

1 paper

NM_001379081.2

p.W1372*

c.4116G>A

1 paper

NM_001379081.2

p.W1372*

c.4115G>A