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

2 papers

NM_001142800.2

p.S1543*

c.4628C>G

Surrounding Variants

2 papers

NM_001142800.2

p.S1543*

c.4628C>A

3 papers

NM_001142800.2

p.L1538_T1539delFs

c.4613_4616del4

1 paper

NM_001142800.2

p.S1533_L1538delFs

c.4597_4613del17

2 papers

NM_001142800.2

p.L1538fs

c.4612_4613fs

1 paper

NM_001142800.2

p.R1537*

c.4609A>T

1 paper

NM_001142800.2

p.Q1536E

c.4606C>G

3 papers

NM_001142800.2

p.E1551*

c.4651G>T

4 papers

NM_001142800.2

p.L1552*

c.4655T>G

4 papers

NM_001142800.2

p.L1552*

c.4655T>A

7 papers

NM_001142800.2

p.E1531E

c.4593G>A

1 paper

NM_001142800.2

p.Y1526insFs

c.4577dupA

1 paper

NM_001142800.2

p.Y1526*

c.4578T>G