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.W1484R

c.4450T>C

Surrounding Variants

1 paper

NM_001142800.2

p.W1484R

c.4450T>A

6 papers

NM_001142800.2

p.W1484*

c.4451G>A

5 papers

NM_001142800.2

p.W1484*

c.4452G>A

1 paper

NM_001142800.2

p.E1482K

c.4444G>A

1 paper

NM_001142800.2

p.E1470_S1479delFs

c.4408_4435del28

1 paper

NM_001142800.2

p.P1489S

c.4465C>T

1 paper

NM_001142800.2

p.S1490L

c.4469C>T

2 papers

NM_001142800.2

p.S1488_S1490insFs

c.4462_4469dup8

1 paper

NM_001142800.2

p.S1473_A1474Fs

c.4417_4420delinsGCCTACAAFs

2 papers

NM_001142800.2

p.E1470delFs

c.4408delC

1 paper

NM_001142800.2

p.E1470fs

c.4408_4409fs

1 paper

NM_001142800.2

p.D1468G

c.4403A>G