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.A1636fs

c.4906_4907fs

Surrounding Variants

1 paper

NM_001142800.2

p.S1635delFs

c.4905delA

2 papers

NM_001142800.2

p.R1638fs

c.4912_4913fs

2 papers

NM_001142800.2

p.S1635fs

c.4903_4904fs

3 papers

NM_001142800.2

p.A1636delFs

c.4908delT

1 paper

NM_001142800.2

p.K1634Fs

c.4901delinsAAAAGFs

4 papers

NM_001142800.2

p.K1633E

c.4897A>G

8 papers

NM_001142800.2

p.P1631S

c.4891C>T

1 paper

NM_001142800.2

p.S1648Y

c.4943C>A

1 paper

NM_001142800.2

p.V1621L

c.4861G>T

1 paper

NM_001142800.2

p.V1621L

c.4861G>C

7 papers

NM_001142800.2

p.S1652*

c.4955C>G

6 papers

NM_001142800.2

p.S1652*

c.4955C>A