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.Q1751*

c.5251C>T

Surrounding Variants

1 paper

NM_001142800.2

p.I1752fs

c.5254_5255fs

2 papers

NM_001142800.2

p.I1752insFs

c.5254dupA

5 papers

NM_001142800.2

p.L1748F

c.5244A>T

6 papers

NM_001142800.2

p.L1748F

c.5244A>C

1 paper

NM_001142800.2

p.Y1753*

c.5259T>G

1 paper

NM_001142800.2

p.Y1753*

c.5259T>A

2 papers

NM_001142800.2

p.E1747G

c.5240A>G

1 paper

NM_001142800.2

p.V1756D

c.5267T>A

1 paper

NM_001142800.2

p.D1741N

c.5221G>A

1 paper

NM_001142800.2

p.Y1761*

c.5283T>G

2 papers

NM_001142800.2

p.Y1761*

c.5283T>A

1 paper

NM_001142800.2

p.P1739L

c.5216C>T