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.R1446delFs

c.4336delG

Surrounding Variants

1 paper

NM_001142800.2

p.R1440_Q1441del2

c.4318_4322del6

12 papers

NM_001142800.2

p.I1451fs

c.4351_4352fs

9 papers

NM_001142800.2

p.I1451T

c.4352T>C

1 paper

NM_001142800.2

p.I1451fs

c.4351_4352fs

19 papers

NM_001142800.2

p.L1450_A1452delFs

c.4350_4356del7

3 papers

NM_001142800.2

p.S1454delins

c.4361_4362delinsAG

3 papers

NM_001142800.2

p.I1455V

c.4363A>G

2 papers

NM_001142800.2

p.I1455_S1456insFs

c.4365_4366ins4

1 paper

NM_001142800.2

p.S1456insFs

c.4366_4367ins4

1 paper

NM_001142800.2

p.G1433R

c.4297G>A

1 paper

NM_001142800.2

p.R1463fs

c.4387_4388fs

1 paper

NM_001142800.2

p.R1463delFs

c.4387delT