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.S2502R

c.7506C>A

Surrounding Variants

1 paper

NM_001142800.2

p.S2502R

c.7506C>G

2 papers

NM_001142800.2

p.E2503K

c.7507G>A

1 paper

NM_001142800.2

p.S2502R

c.7504A>C

25 papers

NM_001142800.2

p.A2498P

c.7492G>C

1 paper

NM_001142800.2

p.N2492_L2493del2

c.7474_7478del6

1 paper

NM_001142800.2

p.S2490G

c.7468A>G

1 paper

NM_001142800.2

p.Y2489C

c.7466A>G

2 papers

NM_001142800.2

p.Y2489D

c.7465T>G

1 paper

NM_001142800.2

p.L2516Q

c.7547T>A

1 paper

NM_001142800.2

p.K2518fs

c.7552_7553fs

1 paper

NM_001142800.2

p.K2518delFs

c.7553delT

1 paper

NM_001142800.2

p.F2520L

c.7558T>C