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

8 papers

NM_001142800.2

p.N2182_S2183delFs

c.6544_6547del4

Surrounding Variants

1 paper

NM_001142800.2

p.N2182fs

c.6544_6545fs

1 paper

NM_001142800.2

p.N2182delFs

c.6545delT

2 papers

NM_001142800.2

p.N2182fs

c.6544_6545fs

55 papers

NM_001142800.2

p.G2186E

c.6557G>A

1 paper

NM_001142800.2

p.K2180T

c.6539A>C

1 paper

NM_001142800.2

p.T2187S

c.6560C>G

1 paper

NM_001142800.2

p.I2188V

c.6562A>G

14 papers

NM_001142800.2

p.I2188T

c.6563T>C

1 paper

NM_001142800.2

p.L2189P

c.6566T>C

6 papers

NM_001142800.2

p.Y2176*

c.6528C>G

6 papers

NM_001142800.2

p.Y2176*

c.6528C>A

2 papers

NM_001142800.2

p.S2191Splc

c.6571+1G>A