Varaico: Literature-Extracted Genetic Variants

FREM2

320 papers

RefSeq Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane...

Pfam Domains

Frem_Naa 72–284UCSCFrem protein N-terminal domain

Cadherin_3aa 320–430UCSCCadherin-like

Cadherin_3aa 439–553UCSCCadherin-like

Cadherin_3aa 561–693UCSCCadherin-like

Cadherin_3aa 707–821UCSCCadherin-like

Cadherin_3aa 829–933UCSCCadherin-like

Gene Aliases

HGNC Name

FRAS1 related extracellular matrix 2

HGNC Alias Symbol

DKFZp686J0811

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_207361.6

p.R2805C

c.8413C>T

Surrounding Variants

1 paper

NM_207361.6

p.R2827C

c.8479C>T

1 paper

NM_207361.6

p.N2833S

c.8498A>G

1 paper

NM_207361.6

p.R2835G

c.8503A>G

1 paper

NM_207361.6

p.V2838F

c.8512G>T

1 paper

NM_207361.6

p.Q2848_V2849Splc

c.8544+1G>T

1 paper

NM_207361.6

p.N2790T

c.8369A>C

1 paper

NM_207361.6

p.R2784K

c.8351G>A

1 paper

NM_207361.6

p.I2783L

c.8347A>C

1 paper

NM_207361.6

p.I2783L

c.8347A>T

1 paper

NM_207361.6

p.R2781H

c.8342G>A

1 paper

NM_207361.6

p.R2781C

c.8341C>T

1 paper

NM_207361.6

p.S2779F

c.8336C>T