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.C2380R

c.7138T>C

Surrounding Variants

2 papers

NM_001142800.2

p.A2373_S2374del2

c.7117_7121del6

2 papers

NM_001142800.2

p.F2372Y

c.7115T>A

1 paper

NM_001142800.2

p.F2372I

c.7114T>A

1 paper

NM_001142800.2

p.Q2371R

c.7112A>G

1 paper

NM_001142800.2

p.S2390P

c.7168T>C

1 paper

NM_001142800.2

p.S2390S

c.7170C>T

7 papers

NM_001142800.2

p.Y2365*

c.7095T>G

7 papers

NM_001142800.2

p.Y2365*

c.7095T>A

1 paper

NM_001142800.2

p.I2394I

c.7182T>C

3 papers

NM_001142800.2

p.C2396S

c.7186T>A

1 paper

NM_001142800.2

p.C2396F

c.7187G>T

3 papers

NM_001142800.2

p.C2396S

c.7187G>C