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

3 papers

NM_001142800.2

p.T1993A

c.5977A>G

Surrounding Variants

1 paper

NM_001142800.2

p.N1992K

c.5976T>G

1 paper

NM_001142800.2

p.N1992K

c.5976T>A

1 paper

NM_001142800.2

p.N1992S

c.5975A>G

1 paper

NM_001142800.2

p.E1997K

c.5989G>A

1 paper

NM_001142800.2

p.I1999V

c.5995A>G

6 papers

NM_001142800.2

p.T1987P

c.5959A>C

1 paper

NM_001142800.2

p.Q1977*

c.5929C>T

2 papers

NM_001142800.2

p.R1976delFs

c.5928delC

3 papers

NM_001142800.2

p.Q1977fs

c.5929_5930fs

1 paper

NM_001142800.2

p.R1976T

c.5927G>C

1 paper

NM_001142800.2

p.R1976Splc

c.5928-2A>T

38 papers

NM_001142800.2

p.R1976Splc

c.5928-2A>G