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

2 papers

NM_001142800.2

p.D3138E

c.9414T>A

Surrounding Variants

2 papers

NM_001142800.2

p.D3138E

c.9414T>G

13 papers

NM_001142800.2

p.Y3135*

c.9405T>G

NM_001292009.2

p.Y3156*

c.9468T>G

13 papers

NM_001142800.2

p.Y3135*

c.9405T>A

NM_001292009.2

p.Y3156*

c.9468T>A

1 paper

NM_001142800.2

p.E3142*

c.9424G>T

1 paper

NM_001292009.2

p.Y3156fs

c.9466_9467fs

1 paper

NM_001142800.2

p.V3143I

c.9427G>A

3 papers

NM_001142800.2

p.V3143insFs

c.9428_9429dupTT

3 papers

NM_001142800.2

p.T3144fs

c.9430_9431fs

1 paper

NM_001142800.2

p.T3144insFs

c.9431dupC

6 papers

NM_001142800.2

p.G3131A

c.9392G>C

1 paper

NM_001142800.2

p.G3131E

c.9392G>A

1 paper

NM_001292009.2

p.E3151_G3152del1

c.9452_9454delCTT