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

3 papers

NM_001379081.2

p.V908fs

c.2722_2723fs

Surrounding Variants

8 papers

NM_001379081.2

p.V907delFs

c.2721delC

1 paper

NM_001379081.2

p.V907fs

c.2719_2720fs

1 paper

NM_001379081.2

p.G904R

c.2710G>C

1 paper

NM_001379081.2

p.G904R

c.2710G>A

1 paper

NM_001379081.2

p.P889P

c.2667A>T

1 paper

NM_001379081.2

p.M927T

c.2780T>C

1 paper

NM_001379081.2

p.E933K

c.2797G>A

1 paper

NM_001379081.2

p.Q935H

c.2805G>T

1 paper

NM_001379081.2

p.Q935H

c.2805G>C

1 paper

NM_001379081.2

p.R940G

c.2818A>G

2 papers

NM_001379081.2

p.T964fs

c.2890_2891fs

2 papers

NM_001379081.2

p.T964delFs

c.2891_2892delTG