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

1 paper

NM_001039348.3

p.Q412*

c.1234C>T

Surrounding Variants

1 paper

NM_001039348.3

p.S405F

c.1214C>T

4 papers

NM_001039348.3

p.R401*

c.1201C>T

1 paper

NM_001039348.3

p.T425S

c.1273A>T

1 paper

NM_001039348.3

p.T425S

c.1274C>G

2 papers

NM_001039348.3

p.Y397C

c.1190A>G

1 paper

NM_001039348.3

p.Y397_M398ins8

c.1189_1193ins24

3 papers

NM_001039348.3

p.Y397H

c.1189T>C

1 paper

NM_001039348.3

p.R427W

c.1279C>T

1 paper

NM_001039348.3

p.S392*

c.1175C>A

1 paper

NM_001039348.3

p.S430_N432del3

c.1288_1295del9

1 paper

NM_001039348.3

p.Q391*

c.1171C>T

1 paper

NM_001039348.3

p.E433delFs

c.1298delT