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.L38del1

c.112_113delCTG

Surrounding Variants

1 paper

NM_207361.6

p.L37F

c.109C>T

1 paper

NM_207361.6

p.L36F

c.106C>T

1 paper

NM_207361.6

p.L35_L36ins0

c.105_107dupGCT

1 paper

NM_207361.6

p.L30del1

c.88_89delCTG

1 paper

NM_207361.6

p.R29_L30del2

c.85_89del6

1 paper

NM_207361.6

p.Q47E

c.139C>G

1 paper

NM_207361.6

p.P28S

c.82C>T

1 paper

NM_207361.6

p.A54V

c.161C>T

1 paper

NM_207361.6

p.T18S

c.53C>G

1 paper

NM_207361.6

p.T18S

c.52A>T

1 paper

NM_207361.6

p.S10delFs

c.29_30delCC

1 paper

NM_207361.6

p.P67S

c.199C>T