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

5 papers

NM_005228.5

p.A864P

c.2590G>C

Surrounding Variants

34 papers

NM_005228.5

p.A864T

c.2590G>A

3 papers

NM_005228.5

p.A864E

c.2591C>A

24 papers

NM_005228.5

p.A864V

c.2591C>T

51 papers

NM_005228.5

p.G863D

c.2588G>A

1 paper

NM_005228.5

p.A864A

c.2592G>A

3 papers

NM_005228.5

p.G863V

c.2588G>T

1 paper

NM_005228.5

p.E866_G873del0

c.2597_2617del21

14 papers

NM_005228.5

p.G863S

c.2587G>A

14 papers

NM_005228.5

p.E865K

c.2593G>A

1 paper

NM_005228.5

p.G863_A864ins4

c.2587_2591ins12

7 papers

NM_005228.5

p.G863C

c.2587G>T

2 papers

NM_005228.5

p.E865*

c.2593G>T