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.S133G

c.397A>G

Surrounding Variants

1 paper

NM_001168235.2

p.Q142ins2

c.424_425ins6

1 paper

NM_001168235.2

p.L140_Q142ins1

c.419_424dup6

1 paper

NM_001168235.2

p.P121H

c.362C>A

1 paper

NM_001168235.2

p.P121S

c.361C>T

1 paper

NM_001168235.2

p.G108fs

c.322_323fs

2 papers

NM_001168235.2

p.A159V

c.476C>T

1 paper

NM_001168235.2

p.V163I

c.487G>A

1 paper

NM_001168235.2

p.A102T

c.304G>A

1 paper

NM_001168235.2

p.Q166*

c.496C>T

1 paper

NM_001168235.2

p.T171M

c.512C>T

1 paper

NM_001168235.2

p.P175L

c.524C>T

1 paper

NM_001168235.2

p.R182Q

c.545G>A