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.Q804H

c.2412G>T

Surrounding Variants

1 paper

NM_001142800.2

p.Q804H

c.2412G>C

1 paper

NM_001142800.2

p.Q804_N805del2

c.2410_2414del6

1 paper

NM_001142800.2

p.W801delFs

c.2402delC

1 paper

NM_001142800.2

p.C797_W801del5

c.2389_2402del15

1 paper

NM_001142800.2

p.G800G

c.2400A>T

1 paper

NM_001142800.2

p.S799F

c.2396C>T

1 paper

NM_001142800.2

p.E796Q

c.2386G>C

2 papers

NM_001142800.2

p.C813*

c.2439C>A

2 papers

NM_001142800.2

p.C795fs

c.2383_2384fs

2 papers

NM_001142800.2

p.S815P

c.2443T>C

3 papers

NM_001142800.2

p.R794Q

c.2381G>A

10 papers

NM_001142800.2

p.R794*

c.2380C>T