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.Q1250H

c.3750G>C

Surrounding Variants

1 paper

NM_001168235.2

p.Q1250H

c.3750G>T

1 paper

NM_001168235.2

p.G1248A

c.3743G>C

1 paper

NM_001168235.2

p.G1239R

c.3715G>C

1 paper

NM_001168235.2

p.G1239R

c.3715G>A

1 paper

NM_001168235.2

p.H1238R

c.3713A>G

1 paper

NM_001168235.2

p.R1237Q

c.3710G>A

1 paper

NM_001168235.2

p.S1264F

c.3791C>T

1 paper

NM_001168235.2

p.D1272Y

c.3814G>T

1 paper

NM_001168235.2

p.T1275I

c.3824C>T

1 paper

NM_001168235.2

p.L1284L

c.3850C>T

1 paper

NM_001168235.2

p.K1294R

c.3881A>G

1 paper

NM_001168235.2

p.P1307L

c.3920C>T