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.P1844delFs

c.5531delG

Surrounding Variants

2 papers

NM_001142800.2

p.P1844fs

c.5530_5531fs

1 paper

NM_001142800.2

p.E1836_W1837del2

c.5506_5510del6

5 papers

NM_001142800.2

p.W1837S

c.5510G>C

3 papers

NM_001142800.2

p.E1836*

c.5506G>T

1 paper

NM_001142800.2

p.E1830*

c.5488G>T

2 papers

NM_001142800.2

p.H1857_P1859delins

c.5571_5576delinsCTAGAT

1 paper

NM_001142800.2

p.L1858_F1860delFs

c.5572_5578del7

1 paper

NM_001142800.2

p.K1829*

c.5485A>T

1 paper

NM_001142800.2

p.L1858_F1860delFs

c.5572_5579del8

1 paper

NM_001142800.2

p.P1859_R1862delFs

c.5577_5584del8

1 paper

NM_001142800.2

p.T1825I

c.5474C>T

1 paper

NM_001142800.2

p.M1824L

c.5470A>T