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.T1424A

c.4270A>G

Surrounding Variants

1 paper

NM_001142800.2

p.T1422S

c.4265C>G

1 paper

NM_001142800.2

p.T1422S

c.4264A>T

1 paper

NM_001142800.2

p.V1427E

c.4280T>A

10 papers

NM_001142800.2

p.L1419S

c.4256T>C

2 papers

NM_001142800.2

p.Q1415_T1416delFs

c.4245_4246delTC

1 paper

NM_001142800.2

p.Q1415H

c.4245G>T

1 paper

NM_001142800.2

p.Q1415H

c.4245G>C

1 paper

NM_001142800.2

p.C1414_Q1415delFs

c.4242_4243delGA

1 paper

NM_001142800.2

p.G1433R

c.4297G>A

1 paper

NM_001142800.2

p.Q1415fs

c.4243_4244fs

1 paper

NM_001142800.2

p.C1414S

c.4241G>C

1 paper

NM_001142800.2

p.C1414S

c.4240T>A