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.I2000T

c.5999T>C

Surrounding Variants

1 paper

NM_207361.6

p.Q1997E

c.5989C>G

1 paper

NM_207361.6

p.D2006V

c.6017A>T

1 paper

NM_207361.6

p.E2007Splc

c.6019+3G>C

1 paper

NM_207361.6

p.L1981del1

c.5941_5942delCTG

1 paper

NM_207361.6

p.L1980del1

c.5938_5939delCTT

1 paper

NM_207361.6

p.E1974K

c.5920G>A

9 papers

NM_207361.6

p.E1972K

c.5914G>A

1 paper

NM_207361.6

p.L1970fs

c.5908_5909fs

1 paper

NM_207361.6

p.L1970delFs

c.5908_5909delTT

1 paper

NM_207361.6

p.I1965V

c.5893A>G

1 paper

NM_207361.6

p.I1963T

c.5888T>C

1 paper

NM_207361.6

p.R1951H

c.5852G>A