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

2 papers

NM_001142800.2

p.S1348F

c.4043C>T

Surrounding Variants

13 papers

NM_001142800.2

p.R1349*

c.4045C>T

1 paper

NM_001142800.2

p.V1345F

c.4033G>T

6 papers

NM_001142800.2

p.S1342S

c.4026C>T

4 papers

NM_001142800.2

p.S1341delFs

c.4022delG

1 paper

NM_001142800.2

p.S1341F

c.4022C>T

2 papers

NM_001142800.2

p.S1341fs

c.4021_4022fs

1 paper

NM_001142800.2

p.L1340I

c.4018C>A

1 paper

NM_001142800.2

p.P1358fs

c.4072_4073fs

1 paper

NM_001142800.2

p.H1337_S1338delFs

c.4011_4012delTG

1 paper

NM_001142800.2

p.S1338G

c.4012A>G

1 paper

NM_001142800.2

p.P1358delFs

c.4073delG

1 paper

NM_001142800.2

p.A1359S

c.4075G>T