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.D1181D

c.3543T>C

Surrounding Variants

1 paper

NM_001379081.2

p.P1179L

c.3536C>T

1 paper

NM_001379081.2

p.Q1189*

c.3565C>T

1 paper

NM_001379081.2

p.S1172_A1173del2

c.3514_3518del6

1 paper

NM_001379081.2

p.R1192H

c.3575G>A

1 paper

NM_001379081.2

p.S1168A

c.3502T>G

1 paper

NM_001379081.2

p.D1198N

c.3592G>A

2 papers

NM_001379081.2

p.G1200E

c.3599G>A

1 paper

NM_001379081.2

p.G1161D

c.3482G>A

2 papers

NM_001379081.2

p.S1202R

c.3604A>C

2 papers

NM_001379081.2

p.S1202R

c.3606C>G

2 papers

NM_001379081.2

p.S1202R

c.3606C>A

1 paper

NM_001379081.2

p.P1211S

c.3631C>T