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.A1520fs

c.4558_4559fs

Surrounding Variants

1 paper

NM_001142800.2

p.A1520P

c.4558G>C

1 paper

NM_001142800.2

p.A1520T

c.4558G>A

1 paper

NM_001142800.2

p.K1519delFs

c.4557delT

1 paper

NM_001142800.2

p.T1518K

c.4553C>A

10 papers

NM_001142800.2

p.S1517G

c.4549A>G

11 papers

NM_001142800.2

p.R1515W

c.4543C>T

1 paper

NM_001142800.2

p.Y1526insFs

c.4577dupA

1 paper

NM_001142800.2

p.Y1526*

c.4578T>G

1 paper

NM_001142800.2

p.Y1526*

c.4578T>A

1 paper

NM_001142800.2

p.S1511P

c.4531T>C

7 papers

NM_001142800.2

p.E1531E

c.4593G>A

2 papers

NM_001142800.2

p.V1505_T1506insGA

c.4513_4517ins6