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.I1674V

c.5020A>G

Surrounding Variants

1 paper

NM_001142800.2

p.S1675S

c.5025T>C

1 paper

NM_001142800.2

p.Q1672*

c.5014C>T

1 paper

NM_001142800.2

p.S1676*

c.5027C>G

1 paper

NM_001142800.2

p.S1676*

c.5027C>A

1 paper

NM_001142800.2

p.N1680D

c.5038A>G

3 papers

NM_001142800.2

p.D1682Y

c.5044G>T

1 paper

NM_001142800.2

p.T1664delFs

c.4991delG

3 papers

NM_001142800.2

p.T1664I

c.4991C>T

3 papers

NM_001142800.2

p.T1664insFs

c.4991_4992ins4

1 paper

NM_001142800.2

p.S1685A

c.5053T>G

1 paper

NM_001142800.2

p.S1685L

c.5054C>T

3 papers

NM_001142800.2

p.D1662V

c.4985A>T