Varaico: Literature-Extracted Genetic Variants

EPS8L1

42 papers

RefSeq Summary

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknow...

Pfam Domains

PTBaa 35–165UCSCPhosphotyrosine-binding domain

EPS8_2ndaa 256–409UCSCEPS8 spectrin-like domain

SH3_1aa 486–529UCSCSH3 domain

SAM_3aa 625–688UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

EPS8 signaling adaptor L1

HGNC Alias Symbols

FLJ20258; MGC23164; MGC4642

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_133180.3

p.L146P

c.437T>C

Surrounding Variants

1 paper

NM_133180.3

p.A144G

c.431C>G

1 paper

NM_133180.3

p.G153A

c.458G>C

1 paper

NM_133180.3

p.A154V

c.461C>T

1 paper

NM_133180.3

p.G139R

c.415G>C

1 paper

NM_133180.3

p.Q131*

c.391C>T

1 paper

NM_133180.3

p.E221A

c.662A>C

1 paper

NM_133180.3

p.E222A

c.665A>C

1 paper

NM_133180.3

p.V105M

c.313G>A

1 paper

NM_133180.3

p.G102D

c.305G>A

1 paper

NM_133180.3

p.S233fs

c.697_698fs

1 paper

NM_133180.3

p.R256W

c.766C>T

1 paper

NM_133180.3

p.L88L

c.264C>T