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.D683N

c.2047G>A

Surrounding Variants

2 papers

NM_001142800.2

p.D681Y

c.2041G>T

2 papers

NM_001142800.2

p.C685*

c.2055T>A

1 paper

NM_001142800.2

p.A686fs

c.2056_2057fs

1 paper

NM_001142800.2

p.C685_A686delFs

c.2055_2056delCA

1 paper

NM_001142800.2

p.C678R

c.2032T>C

1 paper

NM_001142800.2

p.H688insFs

c.2063dupA

2 papers

NM_001142800.2

p.Q677*

c.2029C>T

2 papers

NM_001142800.2

p.T676M

c.2027C>T

1 paper

NM_001142800.2

p.G675fs

c.2023_2024fs

1 paper

NM_001142800.2

p.G675R

c.2023G>C

1 paper

NM_001142800.2

p.A694V

c.2081C>T

2 papers

NM_001142800.2

p.G675Splc

c.2024-14C>T