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.G3025R

c.9073G>C

Surrounding Variants

2 papers

NM_001142800.2

p.G3025R

c.9073G>A

2 papers

NM_001142800.2

p.L3024W

c.9071T>G

1 paper

NM_001142800.2

p.R3027fs

c.9079_9080fs

2 papers

NM_001142800.2

p.I3028insFs

c.9083_9084insA

2 papers

NM_001142800.2

p.R3027_I3028delFs

c.9079_9082del4

1 paper

NM_001142800.2

p.I3028_S3029insFs

c.9084_9085insA

4 papers

NM_001142800.2

p.A3021P

c.9061G>C

4 papers

NM_001142800.2

p.I3020T

c.9059T>C

1 paper

NM_001142800.2

p.L3018W

c.9053T>G

1 paper

NM_001142800.2

p.L3018L

c.9052T>C

1 paper

NM_001142800.2

p.M3032T

c.9095T>C

1 paper

NM_001292009.2

p.M3053fs

c.9157_9158fs