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.I1704L

c.5110A>C

Surrounding Variants

1 paper

NM_001142800.2

p.I1704L

c.5110A>T

1 paper

NM_001142800.2

p.K1700N

c.5100A>T

1 paper

NM_001142800.2

p.K1700*

c.5098A>T

2 papers

NM_001142800.2

p.I1698T

c.5093T>C

1 paper

NM_001142800.2

p.T1710P

c.5128A>C

3 papers

NM_001142800.2

p.E1696*

c.5086G>T

1 paper

NM_001142800.2

p.T1714P

c.5140A>C

1 paper

NM_001142800.2

p.S1693L

c.5078C>T

1 paper

NM_001142800.2

p.D1690V

c.5069A>T

1 paper

NM_001142800.2

p.T1688_T1689del2

c.5062_5066del6

1 paper

NM_001142800.2

p.Q1719E

c.5155C>G

1 paper

NM_001142800.2

p.D1682_K1686del5

c.5044_5057del15