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.I1108V

c.3322A>G

Surrounding Variants

1 paper

NM_207361.6

p.I1106V

c.3316A>G

1 paper

NM_207361.6

p.C1104S

c.3311G>C

1 paper

NM_207361.6

p.C1104S

c.3310T>A

1 paper

NM_207361.6

p.D1100Y

c.3298G>T

1 paper

NM_207361.6

p.N1099S

c.3296A>G

1 paper

NM_207361.6

p.R1128G

c.3382A>G

1 paper

NM_207361.6

p.G1130E

c.3389G>A

2 papers

NM_207361.6

p.I1085T

c.3254T>C

4 papers

NM_207361.6

p.F1070S

c.3209T>C

1 paper

NM_207361.6

p.T1054_I1055del1

c.3161_3163delCTA

1 paper

NM_207361.6

p.F1165delFs

c.3495delT

1 paper

NM_207361.6

p.R1166C

c.3496C>T