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

8 papers

NM_001379081.2

p.Q2143P

c.6428A>C

Surrounding Variants

1 paper

NM_001379081.2

p.V2132A

c.6395T>C

1 paper

NM_001379081.2

p.W2160*

c.6479G>A

1 paper

NM_001379081.2

p.W2160*

c.6480G>A

1 paper

NM_001379081.2

p.E2125*

c.6373G>T

1 paper

NM_001177704.3

p.K699N

c.2097A>T

1 paper

NM_001177704.3

p.K699N

c.2097A>C

1 paper

NM_001379081.2

p.Q2118E

c.6352C>G

1 paper

NM_001379081.2

p.G2114Splc

c.6340+63C>A

1 paper

NM_001379081.2

p.I2113M

c.6339A>G

1 paper

NM_001379081.2

p.D2104N

c.6310G>A

1 paper

NM_001379081.2

p.R2096S

c.6288G>T

1 paper

NM_001379081.2

p.R2096S

c.6288G>C