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.G231D

c.692G>A

Surrounding Variants

1 paper

NM_001008707.2

p.R249K

c.746G>A

8 papers

NM_004434.3

p.T243A

c.727A>G

1 paper

NM_004434.3

p.T243M

c.728C>T

1 paper

NM_004434.3

p.V253M

c.757G>A

2 papers

NM_004434.3

p.V254M

c.760G>A

1 paper

NM_004434.3

p.L277L

c.829C>T

1 paper

NM_004434.3

p.T285T

c.855G>A

1 paper

NM_004434.3

p.S295L

c.884C>T

7 papers

NM_004434.3

p.W225R

c.673T>A

7 papers

NM_004434.3

p.W225R

c.673T>C

1 paper

NM_004434.3

p.P201_K202insFs

c.603_604ins7

1 paper

NM_004434.3

p.R194S

c.580C>A