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

2 papers

NM_001142800.2

p.G2867delFs

c.8600delC

Surrounding Variants

2 papers

NM_001142800.2

p.G2867fs

c.8599_8600fs

2 papers

NM_001142800.2

p.K2866delFs

c.8598delT

3 papers

NM_001142800.2

p.S2869*

c.8606C>G

2 papers

NM_001142800.2

p.S2869*

c.8606C>A

1 paper

NM_001142800.2

p.N2870Y

c.8608A>T

1 paper

NM_001292009.2

p.E2883_G2885delFs

c.8648_8655del8

1 paper

NM_001142800.2

p.G2872delFs

c.8615delC

1 paper

NM_001142800.2

p.G2876V

c.8627G>T

1 paper

NM_001142800.2

p.D2873_G2876del4

c.8617_8627del12

2 papers

NM_001142800.2

p.E2857*

c.8569G>T

1 paper

NM_001142800.2

p.N2855_Q2856delFs

c.8565_8568del4

2 papers

NM_001292009.2

p.A2899G

c.8696C>G

NM_001142800.2

p.A2878G

c.8633C>G