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

5 papers

NM_001379081.2

p.L863V

c.2587C>G

Surrounding Variants

1 paper

NM_001379081.2

p.Q859*

c.2575C>T

1 paper

NM_001379081.2

p.L858F

c.2572C>T

1 paper

NM_001379081.2

p.V876fs

c.2626_2627fs

1 paper

NM_001379081.2

p.V876delFs

c.2626delC

1 paper

NM_001379081.2

p.T870_V876del7

c.2608_2627del21

1 paper

NM_001379081.2

p.R849Splc

c.2546+2T>C

1 paper

NM_001379081.2

p.D842V

c.2525A>T

1 paper

NM_001379081.2

p.F838L

c.2514T>G

1 paper

NM_001379081.2

p.F838L

c.2514T>A

1 paper

NM_001379081.2

p.F838L

c.2512T>C

1 paper

NM_001379081.2

p.N828K

c.2484T>G

1 paper

NM_001379081.2

p.N828K

c.2484T>A