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

1–12 of 76 variants

8 papers

NM_004434.3

p.T243A

c.727A>G

7 papers

NM_004434.3

p.R138*

c.412C>T

7 papers

NM_004434.3

p.W225R

c.673T>A

7 papers

NM_004434.3

p.W225R

c.673T>C

6 papers

NM_004434.3

p.P81P

c.243T>A

4 papers

NM_004434.3

p.R523*

c.1567C>T

3 papers

NM_004434.3

p.G109D

c.326G>A

2 papers

NM_004434.3

p.A29V

c.86C>T

2 papers

NM_004434.3

p.V254M

c.760G>A

2 papers

NM_004434.3

p.G439D

c.1316G>A

2 papers

NM_004434.3

p.G478V

c.1433G>T

2 papers

NM_004434.3

p.V745I

c.2233G>A