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.V3096L

c.9286G>T

Surrounding Variants

1 paper

NM_001142800.2

p.V3096L

c.9286G>C

4 papers

NM_001142800.2

p.V3096fs

c.9286_9287fs

2 papers

NM_001142800.2

p.V3096fs

c.9286_9287fs

1 paper

NM_001142800.2

p.R3094fs

c.9280_9281fs

2 papers

NM_001142800.2

p.G3093insFs

c.9277_9278dupGG

10 papers

NM_001142800.2

p.V3096_V3099delFs

c.9286_9295del10

10 papers

NM_001142800.2

p.T3100fs

c.9298_9299fs

1 paper

NM_001142800.2

p.T3100fs

c.9298_9299fs

1 paper

NM_001142800.2

p.Q3101fs

c.9301_9302fs

13 papers

NM_001142800.2

p.T3100_Q3101delFs

c.9299_9302del4

1 paper

NM_001142800.2

p.T3100_Q3101delFs

c.9299_9303del5

1 paper

NM_001292009.2

p.E3123insFs

c.9368dupA