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

15 papers

NM_001142800.2

p.I2239fs

c.6715_6716fs

Surrounding Variants

32 papers

NM_001142800.2

p.P2238delFs

c.6714delA

1 paper

NM_001142800.2

p.P2238fs

c.6712_6713fs

1 paper

NM_001142800.2

p.I2239fs

c.6715_6716fs

1 paper

NM_001142800.2

p.T2240A

c.6718A>G

1 paper

NM_001142800.2

p.R2242Splc

c.6725+1G>C

1 paper

NM_001142800.2

p.R2242Splc

c.6725+1G>A

1 paper

NM_001142800.2

p.I2231V

c.6691A>G

1 paper

NM_001142800.2

p.G2215G

c.6645G>T

6 papers

NM_001142800.2

p.S2211L

c.6632C>T

1 paper

NM_001142800.2

p.S2211*

c.6632C>G

1 paper

NM_001142800.2

p.S2211*

c.6632C>A

1 paper

NM_001142800.2

p.G2208E

c.6623G>A