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.T2767insFs

c.8301dupT

Surrounding Variants

1 paper

NM_001142800.2

p.T2767S

c.8300C>G

1 paper

NM_001142800.2

p.T2767S

c.8299A>T

1 paper

NM_001142800.2

p.R2766T

c.8297G>C

9 papers

NM_001142800.2

p.L2770P

c.8309T>C

1 paper

NM_001142800.2

p.L2763R

c.8288T>G

1 paper

NM_001142800.2

p.R2760P

c.8279G>C

3 papers

NM_001142800.2

p.R2760C

c.8278C>T

1 paper

NM_001142800.2

p.V2776delFs

c.8326delC

1 paper

NM_001142800.2

p.S2756_Q2758del3

c.8266_8273del9

1 paper

NM_001142800.2

p.S2756_Q2758delFs

c.8268_8272del5

1 paper

NM_001292009.2

p.V2778fs

c.8332_8333fs

1 paper

NM_001142800.2

p.V2757F

c.8269G>T