Varaico: Literature-Extracted Genetic Variants

EFEMP1

288 papers

RefSeq Summary

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like rep...

Pfam Domains

EGF_CAaa 44–84UCSCCalcium-binding EGF domain

EGF_CAaa 173–212UCSCCalcium-binding EGF domain

cEGFaa 234–257UCSCComplement Clr-like EGF-like

cEGFaa 274–297UCSCComplement Clr-like EGF-like

cEGFaa 315–337UCSCComplement Clr-like EGF-like

Fibulin_Caa 391–490UCSCFibulin C-terminal Ig-like domain

Gene Aliases

HGNC Name

EGF-like fibulin extracellular matrix protein 1

HGNC Previous Symbols

DHRD; FBNL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001039348.3

p.*494E

c.1480T>G

Surrounding Variants

7 papers

NM_001039348.3

p.*494Q

c.1480T>C

1 paper

NM_001039348.3

p.F493I

c.1477T>A

1 paper

NM_001039348.3

p.S492L

c.1475C>T

1 paper

NM_001039348.3

p.P490Q

c.1469C>A

1 paper

NM_001039348.3

p.R477H

c.1430G>A

10 papers

NM_001039348.3

p.R477C

c.1429C>T

1 paper

NM_001039348.3

p.T475insFs

c.1425dupC

1 paper

NM_001039348.3

p.L455F

c.1365A>T

1 paper

NM_001039348.3

p.L455F

c.1365A>C

1 paper

NM_001039348.3

p.L451R

c.1352T>G

2 papers

NM_001039348.3

p.L451P

c.1352T>C

2 papers

NM_001039348.3

p.L451F

c.1351C>T