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

24 papers

NM_001142800.2

p.A2410Splc

c.7228+1G>A

Surrounding Variants

3 papers

NM_001142800.2

p.A2410S

c.7228G>T

2 papers

NM_001142800.2

p.A2410T

c.7228G>A

1 paper

NM_001142800.2

p.T2408A

c.7222A>G

2 papers

NM_001142800.2

p.S2403Y

c.7208C>A

1 paper

NM_001142800.2

p.R2402K

c.7205G>A

1 paper

NM_001142800.2

p.C2396F

c.7187G>T

3 papers

NM_001142800.2

p.C2396S

c.7187G>C

1 paper

NM_001142800.2

p.C2396Y

c.7187G>A

3 papers

NM_001142800.2

p.C2396S

c.7186T>A

1 paper

NM_001142800.2

p.I2394I

c.7182T>C

1 paper

NM_001142800.2

p.S2390S

c.7170C>T

1 paper

NM_001142800.2

p.S2390P

c.7168T>C