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.H268L

c.803A>T

Surrounding Variants

1 paper

NM_207361.6

p.R267H

c.800G>A

1 paper

NM_207361.6

p.R277S

c.831G>C

1 paper

NM_207361.6

p.R277S

c.831G>T

1 paper

NM_207361.6

p.V284L

c.850G>C

1 paper

NM_207361.6

p.V284L

c.850G>T

3 papers

NM_207361.6

p.T251fs

c.751_752fs

3 papers

NM_207361.6

p.E250_T251insFs

c.750_751dupGA

1 paper

NM_207361.6

p.E245G

c.734A>G

1 paper

NM_207361.6

p.A243T

c.727G>A

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.E232insFs

c.695_696ins29