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.D647V

c.1940A>T

Surrounding Variants

1 paper

NM_207361.6

p.Q646delFs

c.1938delG

2 papers

NM_207361.6

p.T641A

c.1921A>G

1 paper

NM_207361.6

p.T641_E642del2

c.1921_1925del6

1 paper

NM_207361.6

p.S662G

c.1984A>G

1 paper

NM_207361.6

p.L625I

c.1873C>A

1 paper

NM_207361.6

p.H616P

c.1847A>C

1 paper

NM_207361.6

p.Q683E

c.2047C>G

1 paper

NM_207361.6

p.G685V

c.2054G>T

1 paper

NM_207361.6

p.P603S

c.1807C>T

1 paper

NM_207361.6

p.R692C

c.2074C>T

1 paper

NM_207361.6

p.R692H

c.2075G>A

1 paper

NM_207361.6

p.R692L

c.2075G>T