Varaico: Literature-Extracted Genetic Variants

EPS8L3

59 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 28–156UCSCPhosphotyrosine-binding domain

EPS8_2ndaa 237–377UCSCEPS8 spectrin-like domain

SH3_1aa 456–501UCSCSH3 domain

SAM_3aa 520–583UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

EPS8 signaling adaptor L3

HGNC Alias Symbols

FLJ21522; MGC16817

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133181.4

p.E240K

c.718G>A

Surrounding Variants

1 paper

NM_133181.4

p.E239_E240Splc

c.718-1G>A

2 papers

NM_133181.4

p.Q260*

c.778C>T

1 paper

NM_133181.4

p.S264R

c.790A>C

1 paper

NM_133181.4

p.S264R

c.792C>G

1 paper

NM_133181.4

p.S264R

c.792C>A

1 paper

NM_133181.4

p.N273fs

c.817_818fs

1 paper

NM_133181.4

p.N273insFs

c.818_819insA

1 paper

NM_133181.4

p.K274insFs

c.821_822insA

1 paper

NM_133181.4

p.K274delFs

c.821delT

1 paper

NM_133181.4

p.G278Splc

c.833-19T>C

7 papers

NM_133181.4

p.H293Y

c.877C>T

2 papers

NM_133181.4

p.R228W

c.682C>T