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.T95S

c.283A>T

Surrounding Variants

1 paper

NM_004434.3

p.T90N

c.269C>A

1 paper

NM_004434.3

p.Q89*

c.265C>T

3 papers

NM_004434.3

p.G109D

c.326G>A

1 paper

NM_004434.3

p.S115F

c.344C>T

1 paper

NM_004434.3

p.G116R

c.346G>A

1 paper

NM_004434.3

p.G116R

c.346G>C