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

7 papers

NM_001142800.2

p.G3012delFs

c.9036delA

Surrounding Variants

5 papers

NM_001142800.2

p.L3013fs

c.9037_9038fs

1 paper

NM_001142800.2

p.G3012delFs

c.9034delC

1 paper

NM_001292009.2

p.I3032V

c.9094A>G

1 paper

NM_001142800.2

p.A3010A

c.9030A>G

1 paper

NM_001142800.2

p.L3018L

c.9052T>C

1 paper

NM_001142800.2

p.L3018W

c.9053T>G

5 papers

NM_001292009.2

p.D3028Y

c.9082G>T

NM_001142800.2

p.D3007Y

c.9019G>T

4 papers

NM_001142800.2

p.I3020T

c.9059T>C

4 papers

NM_001142800.2

p.A3021P

c.9061G>C

1 paper

NM_001142800.2

p.Q3002*

c.9004C>T

2 papers

NM_001142800.2

p.L3024W

c.9071T>G

1 paper

NM_001142800.2

p.A3001V

c.9002C>T