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.S1648Y

c.4943C>A

Surrounding Variants

7 papers

NM_001142800.2

p.S1652*

c.4955C>G

6 papers

NM_001142800.2

p.S1652*

c.4955C>A

23 papers

NM_001142800.2

p.S1653fs

c.4957_4958fs

40 papers

NM_001142800.2

p.S1653insFs

c.4957dupA

1 paper

NM_001142800.2

p.S1653delFs

c.4957delT

18 papers

NM_001142800.2

p.S1653fs

c.4957_4958fs

1 paper

NM_001142800.2

p.L1655M

c.4963T>A

3 papers

NM_001142800.2

p.A1636delFs

c.4908delT

2 papers

NM_001142800.2

p.R1638fs

c.4912_4913fs

1 paper

NM_001142800.2

p.A1636fs

c.4906_4907fs

1 paper

NM_001142800.2

p.S1635delFs

c.4905delA

1 paper

NM_001142800.2

p.L1661_D1662insATG

c.4981_4985ins9