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.A1359V

c.4076C>T

Surrounding Variants

1 paper

NM_001142800.2

p.A1359S

c.4075G>T

1 paper

NM_001142800.2

p.P1358delFs

c.4073delG

1 paper

NM_001142800.2

p.P1358fs

c.4072_4073fs

9 papers

NM_001142800.2

p.I1361V

c.4081A>G

1 paper

NM_001142800.2

p.I1361T

c.4082T>C

2 papers

NM_001142800.2

p.K1365E

c.4093A>G

1 paper

NM_001142800.2

p.S1367*

c.4100C>A

2 papers

NM_001142800.2

p.V1368insFs

c.4103dupT

1 paper

NM_001142800.2

p.V1368insFs

c.4104dupA

2 papers

NM_001142800.2

p.S1369fs

c.4105_4106fs

13 papers

NM_001142800.2

p.R1349*

c.4045C>T

2 papers

NM_001142800.2

p.H1370Y

c.4108C>T