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.Y1583C

c.4748A>G

Surrounding Variants

1 paper

NM_001142800.2

p.Q1579_H1581delFs

c.4736_4743del8

2 papers

NM_001142800.2

p.W1587*

c.4760G>A

1 paper

NM_001142800.2

p.Q1579P

c.4736A>C

2 papers

NM_001142800.2

p.W1587*

c.4761G>A

1 paper

NM_001142800.2

p.Q1579fs

c.4735_4736fs

1 paper

NM_001142800.2

p.K1578delFs

c.4734delT

1 paper

NM_001142800.2

p.L1575V

c.4723T>G

1 paper

NM_001142800.2

p.L1593V

c.4777T>G

1 paper

NM_001142800.2

p.A1594S

c.4780G>T

2 papers

NM_001142800.2

p.S1571*

c.4712C>G

2 papers

NM_001142800.2

p.S1571*

c.4712C>A

2 papers

NM_001142800.2

p.W1596L

c.4787G>T