Varaico: Literature-Extracted Genetic Variants

EPS8

107 papers

RefSeq Summary

This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly s...

Pfam Domains

PTBaa 64–194UCSCPhosphotyrosine-binding domain

EPS8_2ndaa 268–421UCSCEPS8 spectrin-like domain

SH3_1aa 537–582UCSCSH3 domain

SAM_3aa 716–778UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

EGFR pathway substrate 8, signaling adaptor

HGNC Previous Name

epidermal growth factor receptor pathway substrate 8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004447.6

p.E68_H69Splc

c.205-8A>G

Surrounding Variants

1 paper

NM_004447.6

p.L70F

c.210G>T

1 paper

NM_004447.6

p.L70F

c.210G>C

1 paper

NM_004447.6

p.R77Q

c.230G>A

1 paper

NM_004447.6

p.L91W

c.272T>G

1 paper

NM_004447.6

p.W101G

c.301T>G

1 paper

NM_004447.6

p.Q108K

c.322C>A

1 paper

NM_004447.6

p.N127K

c.381T>G

1 paper

NM_004447.6

p.N127K

c.381T>A

1 paper

NM_004447.6

p.E68K

c.202G>A

1 paper

NM_004447.6

p.R66L

c.197G>T

1 paper

NM_004447.6

p.Q64E

c.190C>G

1 paper

NM_004447.6

p.K193M

c.578A>T