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

1 paper

NM_207361.6

p.G706S

c.2116G>A

Surrounding Variants

1 paper

NM_207361.6

p.G704C

c.2110G>T

2 papers

NM_207361.6

p.R710C

c.2128C>T

1 paper

NM_207361.6

p.P700S

c.2098C>T

1 paper

NM_207361.6

p.L699I

c.2095C>A

1 paper

NM_207361.6

p.R692H

c.2075G>A

1 paper

NM_207361.6

p.R692L

c.2075G>T

1 paper

NM_207361.6

p.P720T

c.2158C>A

1 paper

NM_207361.6

p.R692C

c.2074C>T

1 paper

NM_207361.6

p.G685V

c.2054G>T

1 paper

NM_207361.6

p.R727H

c.2180G>A

1 paper

NM_207361.6

p.Y728delFs

c.2184delC

1 paper

NM_207361.6

p.Q683E

c.2047C>G