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.L1004P

c.3011T>C

Surrounding Variants

1 paper

NM_001379081.2

p.A1006T

c.3016G>A

1 paper

NM_001379081.2

p.S1007P

c.3019T>C

1 paper

NM_001379081.2

p.V1010E

c.3029T>A

1 paper

NM_001379081.2

p.D1012N

c.3034G>A

1 paper

NM_001379081.2

p.A986V

c.2957C>T

1 paper

NM_001379081.2

p.E985K

c.2953G>A

1 paper

NM_001379081.2

p.S982*

c.2945C>A

1 paper

NM_001379081.2

p.G1030Splc

c.3089-4G>T

1 paper

NM_001379081.2

p.V1065I

c.3193G>A

1 paper

NM_001379081.2

p.G1081C

c.3241G>T

1 paper

NM_001379081.2

p.E1083insFs

c.3247_3248insT

1 paper

NM_001379081.2

p.I1091del1

c.3271_3272delTAT