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

13 papers

NM_001142800.2

p.L852P

c.2555T>C

Surrounding Variants

1 paper

NM_001142800.2

p.Y850_N851delFs

c.2550_2553del4

1 paper

NM_001142800.2

p.L852delFs

c.2555_2556delAA

1 paper

NM_001142800.2

p.L852_C853delFs

c.2554_2557del4

3 papers

NM_001142800.2

p.R849C

c.2545C>T

1 paper

NM_001142800.2

p.Q848*

c.2542C>T

2 papers

NM_001142800.2

p.Q844*

c.2530C>T

38 papers

NM_001142800.2

p.G843E

c.2528G>A

2 papers

NM_001142800.2

p.G843R

c.2527G>C

2 papers

NM_001142800.2

p.G843R

c.2527G>A

2 papers

NM_001142800.2

p.Y841fs

c.2521_2522fs

6 papers

NM_001142800.2

p.Y841insFs

c.2522_2523insA

2 papers

NM_001142800.2

p.Y841*

c.2523T>G