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

1–12 of 65 variants

7 papers

NM_133181.4

p.H293Y

c.877C>T

3 papers

NM_133181.4

p.G163S

c.487G>A

3 papers

NM_133181.4

p.P356S

c.1066C>T

2 papers

NM_133181.4

p.A8T

c.22G>A

2 papers

NM_133181.4

p.P24T

c.70C>A

2 papers

NM_133181.4

p.R228W

c.682C>T

2 papers

NM_133181.4

p.Q260*

c.778C>T

1 paper

NM_133181.4

p.S2L

c.5C>T

1 paper

NM_133181.4

p.S5N

c.14G>A

1 paper

NM_133181.4

p.S5_S6delFs

c.13_16del4

1 paper

NM_133181.4

p.R13Q

c.38G>A

1 paper

NM_133181.4

p.R13_Y16del4

c.37_47del12