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.Q332H

c.996G>T

Surrounding Variants

1 paper

NM_207361.6

p.Q332H

c.996G>C

1 paper

NM_207361.6

p.E346Q

c.1036G>C

1 paper

NM_207361.6

p.A313A

c.939C>T

1 paper

NM_207361.6

p.R310Q

c.929G>A

1 paper

NM_207361.6

p.R308S

c.924G>C

1 paper

NM_207361.6

p.R308S

c.924G>T

1 paper

NM_207361.6

p.R308M

c.923G>T

1 paper

NM_207361.6

p.N358S

c.1073A>G

1 paper

NM_207361.6

p.P362A

c.1084C>G

1 paper

NM_207361.6

p.L298F

c.894G>C

1 paper

NM_207361.6

p.L298F

c.894G>T

1 paper

NM_207361.6

p.L378insFs

c.1132dupC