Varaico: Literature-Extracted Genetic Variants

EGFR

13,423 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR ...

Pfam Domains

Recep_L_domainaa 57–144UCSCReceptor L domain

Recep_L_domainaa 57–168UCSCReceptor L domain

Furin-likeaa 177–338UCSCFurin-like cysteine rich region

Recep_L_domainaa 308–428UCSCReceptor L domain

GF_recep_IVaa 452–584UCSCGrowth factor receptor domain IV

TM_ErbB1aa 593–628UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

Gene Aliases

HGNC Name

epidermal growth factor receptor

HGNC Alias Symbols

ERBB1; ERRP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005228.5

p.K80_T81Splc

c.241-8C>G

Surrounding Variants

1 paper

NM_005228.5

p.K80_T81Splc

c.241-2A>C

1 paper

NM_005228.5

p.T81_Q83delFs

c.242_248del7

1 paper

NM_005228.5

p.T81A

c.241A>G

2 papers

NM_005228.5

p.T81N

c.242C>A

2 papers

NM_005228.5

p.T81S

c.242C>G

1 paper

NM_005228.5

p.T81I

c.242C>T

2 papers

NM_005228.5

p.I82V

c.244A>G

8 papers

NM_005228.5

p.I82F

c.244A>T

1 paper

NM_005228.5

p.I82T

c.245T>C

1 paper

NM_005228.5

p.I82_Q83del1

c.246_248delCCA

1 paper

NM_005228.5

p.I82M

c.246C>G

1 paper

NM_005228.5

p.Q83K

c.247C>A