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.Q2066R

c.6197A>G

Surrounding Variants

1 paper

NM_001142800.2

p.Q2066fs

c.6196_6197fs

1 paper

NM_001142800.2

p.S2065fs

c.6193_6194fs

1 paper

NM_001142800.2

p.Q2066_G2067delFs

c.6198_6201del4

2 papers

NM_001142800.2

p.R2064Splc

c.6192-1G>T

2 papers

NM_001142800.2

p.R2064Splc

c.6192-1G>A

1 paper

NM_001142800.2

p.R2064Splc

c.6192-2A>G

1 paper

NM_001142800.2

p.M2069V

c.6205A>G

1 paper

NM_001142800.2

p.F2068insFs

c.6204dupT

1 paper

NM_001142800.2

p.R2064Splc

c.6192-4A>G

1 paper

NM_001142800.2

p.M2069fs

c.6205_6206fs

1 paper

NM_001142800.2

p.R2064Splc

c.6192-7A>G

1 paper

NM_001142800.2

p.R2064Splc

c.6192-8A>G