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.K2518fs

c.7552_7553fs

Surrounding Variants

1 paper

NM_001142800.2

p.K2518delFs

c.7553delT

1 paper

NM_001142800.2

p.L2516Q

c.7547T>A

1 paper

NM_001142800.2

p.F2520L

c.7558T>C

1 paper

NM_001142800.2

p.F2520L

c.7560C>G

1 paper

NM_001142800.2

p.F2520L

c.7560C>A

4 papers

NM_001142800.2

p.E2522_G2523insA

c.7564_7568ins3

1 paper

NM_001142800.2

p.W2524*

c.7571G>A

1 paper

NM_001142800.2

p.W2524*

c.7572G>A

3 papers

NM_001142800.2

p.K2526_V2527Splc

c.7578+1G>A

1 paper

NM_001142800.2

p.K2526_V2527Splc

c.7578+18C>T

2 papers

NM_001142800.2

p.E2503K

c.7507G>A

1 paper

NM_001142800.2

p.S2502R

c.7506C>G