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

1–12 of 1768 variants

59 papers

NM_001142800.2

p.C2139Y

c.6416G>A

55 papers

NM_001142800.2

p.G2186E

c.6557G>A

49 papers

NM_001142800.2

p.Y2935*

c.8805C>A

40 papers

NM_001142800.2

p.S1653insFs

c.4957dupA

40 papers

NM_001142800.2

p.Y2935*

c.8805C>G

38 papers

NM_001142800.2

p.G843E

c.2528G>A

38 papers

NM_001142800.2

p.R1976Splc

c.5928-2A>G

32 papers

NM_001142800.2

p.P2238delFs

c.6714delA

25 papers

NM_001142800.2

p.A2498P

c.7492G>C

25 papers

NM_001142800.2

p.W2640*

c.7919G>A

24 papers

NM_001142800.2

p.A2410Splc

c.7228+1G>A

23 papers

NM_001142800.2

p.V713Splc

c.2137+1G>A