Varaico: Literature-Extracted Genetic Variants

FREM3

128 papers

RefSeq Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extrac...

Pfam Domains

Frem_Naa 62–269UCSCFrem protein N-terminal domain

Cadherin_3aa 307–425UCSCCadherin-like

Cadherin_3aa 433–536UCSCCadherin-like

Cadherin_3aa 544–598UCSCCadherin-like

Cadherin_3aa 703–821UCSCCadherin-like

Cadherin_3aa 829–934UCSCCadherin-like

Gene Aliases

HGNC Name

FRAS1 related extracellular matrix 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001168235.2

p.R1925C

c.5773C>T

Surrounding Variants

1 paper

NM_001168235.2

p.I1919T

c.5756T>C

2 papers

NM_001168235.2

p.R1910Q

c.5729G>A

2 papers

NM_001168235.2

p.R1910*

c.5728C>T

1 paper

NM_001168235.2

p.P1891S

c.5671C>T

1 paper

NM_001168235.2

p.E1878K

c.5632G>A

1 paper

NM_001168235.2

p.D1848H

c.5542G>C

1 paper

NM_001168235.2

p.V1843L

c.5527G>T

1 paper

NM_001168235.2

p.V1843L

c.5527G>C

1 paper

NM_001168235.2

p.K1823*

c.5467A>T

1 paper

NM_001168235.2

p.D1819fs

c.5455_5456fs

1 paper

NM_001168235.2

p.S1808I

c.5423G>T

1 paper

NM_001168235.2

p.S1808Splc

c.5422+1G>C