Varaico: Literature-Extracted Genetic Variants

EFEMP2

135 papers

RefSeq Summary

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation,...

Pfam Domains

EGF_CAaa 54–86UCSCCalcium-binding EGF domain

EGF_CAaa 123–162UCSCCalcium-binding EGF domain

cEGFaa 183–206UCSCComplement Clr-like EGF-like

cEGFaa 223–246UCSCComplement Clr-like EGF-like

hEGFaa 257–273UCSCHuman growth factor-like EGF

EGF_CAaa 283–336UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

EGF-like fibulin extracellular matrix protein 2

HGNC Alias Symbols

FBLN4; UPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016938.5

p.R236_G238del0

c.708_713del6

Surrounding Variants

1 paper

NM_016938.5

p.G231D

c.692G>A

1 paper

NM_016938.5

p.G231R

c.691G>C

1 paper

NM_016938.5

p.H229Y

c.685C>T

8 papers

NM_016938.5

p.R227C

c.679C>T

1 paper

NM_016938.5

p.C217R

c.649T>C

4 papers

NM_016938.5

p.C213*

c.639C>A

1 paper

NM_016938.5

p.G210R

c.628G>C

1 paper

NM_016938.5

p.G210R

c.628G>A

1 paper

NM_016938.5

p.M209I

c.627G>T

1 paper

NM_016938.5

p.M209I

c.627G>C

1 paper

NM_016938.5

p.M209I

c.627G>A

12 papers

NM_016938.5

p.D203A

c.608A>C