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.G361R

c.1081G>C

Surrounding Variants

2 papers

NM_133180.3

p.G361R

c.1081G>A

1 paper

NM_133180.3

p.S360delFs

c.1080delG

1 paper

NM_133180.3

p.S360fs

c.1078_1079fs

1 paper

NM_133180.3

p.P363fs

c.1087_1088fs

1 paper

NM_133180.3

p.P363A

c.1087C>G

1 paper

NM_133180.3

p.P363P

c.1089G>A

1 paper

NM_133180.3

p.E364Q

c.1090G>C

1 paper

NM_133180.3

p.A378V

c.1133C>T

1 paper

NM_133180.3

p.R383W

c.1147C>T

1 paper

NM_133180.3

p.D384Y

c.1150G>T

1 paper

NM_133180.3

p.G405E

c.1214G>A

1 paper

NM_133180.3

p.R332G

c.994C>G