Varaico: Literature-Extracted Genetic Variants

EML1

78 papers

RefSeq Summary

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafnes...

Pfam Domains

HELPaa 216–255UCSCHELP motif

Beta-prop_EMLaa 263–529UCSCEchinoderm microtubule-associated protein first beta-propeller

WD40aa 533–571UCSCWD domain, G-beta repeat

WD40aa 616–654UCSCWD domain, G-beta repeat

WD40aa 662–699UCSCWD domain, G-beta repeat

WD40aa 774–813UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

EMAP like 1

HGNC Previous Symbol

EMAPL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004434.3

p.D806H

c.2416G>C

Surrounding Variants

1 paper

NM_004434.3

p.R813H

c.2438G>A

1 paper

NM_004434.3

p.D791N

c.2371G>A

1 paper

NM_004434.3

p.Q772R

c.2315A>G

1 paper

NM_004434.3

p.D758N

c.2272G>A

1 paper

NM_004434.3

p.H749R

c.2246A>G

1 paper

NM_004434.3

p.R747Q

c.2240G>A

2 papers

NM_004434.3

p.V745I

c.2233G>A

1 paper

NM_004434.3

p.G739R

c.2215G>A

1 paper

NM_004434.3

p.G739R

c.2215G>C

1 paper

NM_004434.3

p.F727F

c.2181C>T

1 paper

NM_004434.3

p.E695K

c.2083G>A

1 paper

NM_004434.3

p.T676N

c.2027C>A