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.L51F

c.153G>T

Surrounding Variants

1 paper

NM_133181.4

p.L51F

c.153G>C

1 paper

NM_133181.4

p.D49V

c.146A>T

1 paper

NM_133181.4

p.C37_E48del12

c.109_143del36

1 paper

NM_133181.4

p.F55I

c.163T>A

1 paper

NM_133181.4

p.F55S

c.164T>C

1 paper

NM_133181.4

p.V44I

c.130G>A

1 paper

NM_133181.4

p.K38*

c.112A>T

1 paper

NM_133181.4

p.D67N

c.199G>A

1 paper

NM_133181.4

p.M35I

c.105G>T

1 paper

NM_133181.4

p.M35I

c.105G>C

1 paper

NM_133181.4

p.M35I

c.105G>A

1 paper

NM_133181.4

p.T105K

c.314C>A