Varaico: Literature-Extracted Genetic Variants

EYS

677 papers

RefSeq Summary

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal ...

Pfam Domains

EGFaa 177–210UCSCEGF-like domain

EGFaa 685–712UCSCEGF-like domain

hEGFaa 742–763UCSCHuman growth factor-like EGF

EGFaa 775–805UCSCEGF-like domain

EGFaa 813–845UCSCEGF-like domain

hEGFaa 899–920UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

EGF-like photoreceptor maintenance factor

HGNC Previous Symbols

C6orf180; EGFL11; RP25; EGFL10; C6orf178; C6orf179

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142800.2

p.P1859_R1862delFs

c.5577_5584del8

Surrounding Variants

1 paper

NM_001142800.2

p.L1858_F1860delFs

c.5572_5579del8

1 paper

NM_001142800.2

p.L1858_F1860delFs

c.5572_5578del7

2 papers

NM_001142800.2

p.H1857_P1859delins

c.5571_5576delinsCTAGAT

3 papers

NM_001142800.2

p.S1867F

c.5600C>T

2 papers

NM_001142800.2

p.S1868S

c.5604A>T

1 paper

NM_001142800.2

p.L1869M

c.5605C>A

8 papers

NM_001142800.2

p.L1873V

c.5617C>G

2 papers

NM_001142800.2

p.A1874insFs

c.5621dupC

2 papers

NM_001142800.2

p.P1875fs

c.5623_5624fs

2 papers

NM_001142800.2

p.R1877W

c.5629C>T

1 paper

NM_001142800.2

p.Q1876_R1877del2

c.5626_5630del6

1 paper

NM_001142800.2

p.M1879K

c.5636T>A