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.A763_Y764ins4

c.2289_2290ins12

Surrounding Variants

1 paper

NM_005228.5

p.D761_E762Splc

c.2284-8C>A

1 paper

NM_005228.5

p.D761_E762Splc

c.2284-6C>A

3 papers

NM_005228.5

p.Y764ins4

c.2290_2291ins12

1 paper

NM_005228.5

p.D761_E762Splc

c.2284-5T>C

1 paper

NM_005228.5

p.Y764ins4

c.2290_2291ins12

3 papers

NM_005228.5

p.E762K

c.2284G>A

1 paper

NM_005228.5

p.E762Q

c.2284G>C

1 paper

NM_005228.5

p.E762A

c.2285A>C

6 papers

NM_005228.5

p.E762G

c.2285A>G

1 paper

NM_005228.5

p.E762V

c.2285A>T

1 paper

NM_005228.5

p.E762E

c.2286A>G

1 paper

NM_005228.5

p.D761_E762Splc

c.2284-21C>T