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.H945Y

c.2833C>T

Surrounding Variants

1 paper

NM_207361.6

p.H945fs

c.2833_2834fs

1 paper

NM_207361.6

p.H945delFs

c.2833delC

1 paper

NM_207361.6

p.V933A

c.2798T>C

1 paper

NM_207361.6

p.G960E

c.2879G>A

1 paper

NM_207361.6

p.I964V

c.2890A>G

1 paper

NM_207361.6

p.H922L

c.2765A>T

1 paper

NM_207361.6

p.L916*

c.2747T>A

1 paper

NM_207361.6

p.D907V

c.2720A>T

1 paper

NM_207361.6

p.G906E

c.2717G>A

2 papers

NM_207361.6

p.R899*

c.2695C>T

2 papers

NM_207361.6

p.Q897*

c.2689C>T

1 paper

NM_207361.6

p.E893Q

c.2677G>C