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

1–12 of 381 variants

11 papers

NM_001379081.2

p.R649W

c.1945C>T

9 papers

NM_001379081.2

p.A1212S

c.3634G>T

8 papers

NM_001379081.2

p.V907delFs

c.2721delC

8 papers

NM_001379081.2

p.G1440S

c.4318G>A

8 papers

NM_001379081.2

p.Q2143P

c.6428A>C

7 papers

NM_001379081.2

p.L1324R

c.3971T>G

5 papers

NM_001379081.2

p.G465A

c.1394G>C

5 papers

NM_001379081.2

p.L863V

c.2587C>G

4 papers

NM_001379081.2

p.V439L

c.1315G>C

4 papers

NM_001379081.2

p.R498Q

c.1493G>A

4 papers

NM_001379081.2

p.D1092Splc

c.3274+4A>G

4 papers

NM_001379081.2

p.V2091I

c.6271G>A