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.E511K

c.1531G>A

Surrounding Variants

4 papers

NM_004434.3

p.R523*

c.1567C>T

1 paper

NM_004434.3

p.P537L

c.1610C>T

1 paper

NM_004434.3

p.H552N

c.1654C>A

1 paper

NM_004434.3

p.S556P

c.1666T>C

1 paper

NM_004434.3

p.G489R

c.1465G>A

1 paper

NM_004434.3

p.G489R

c.1465G>C

1 paper

NM_004434.3

p.S488S

c.1464C>T

2 papers

NM_004434.3

p.G478V

c.1433G>T

1 paper

NM_004434.3

p.A458V

c.1373C>T

1 paper

NM_004434.3

p.T603_L604ins7

c.1807_1811ins21

2 papers

NM_004434.3

p.G439D

c.1316G>A

1 paper

NM_004434.3

p.D431N

c.1291G>A