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.G2745Splc

c.8234-2A>G

Surrounding Variants

1 paper

NM_001292009.2

p.G2766A

c.8297G>C

1 paper

NM_001142800.2

p.D2746Y

c.8236G>T

2 papers

NM_001142800.2

p.D2746H

c.8236G>C

1 paper

NM_001292009.2

p.D2767fs

c.8299_8300fs

2 papers

NM_001142800.2

p.L2748fs

c.8242_8243fs

5 papers

NM_001142800.2

p.L2748_C2749insFs

c.8244_8245insT

NM_001292009.2

p.D2767insFs

c.8301dupT

1 paper

NM_001142800.2

p.L2748fs

c.8242_8243fs

2 papers

NM_001142800.2

p.L2748delFs

c.8242_8243delAA

1 paper

NM_001142800.2

p.C2749R

c.8245T>C

1 paper

NM_001142800.2

p.L2748delFs

c.8243_8244delTA

2 papers

NM_001142800.2

p.L2752_N2754del0

c.8255_8260del6

1 paper

NM_001142800.2

p.S2756fs

c.8266_8267fs