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

39 papers

NM_005228.5

p.S464L

c.1391C>T

Surrounding Variants

1 paper

NM_005228.5

p.S464*

c.1391C>A

1 paper

NM_005228.5

p.S464*

c.1391C>G

2 papers

NM_005228.5

p.S464T

c.1390T>A

2 papers

NM_005228.5

p.S464P

c.1390T>C

56 papers

NM_005228.5

p.G465R

c.1393G>A

57 papers

NM_005228.5

p.G465R

c.1393G>C

23 papers

NM_005228.5

p.G465E

c.1394G>A

6 papers

NM_005228.5

p.G465V

c.1394G>T

1 paper

NM_005228.5

p.I463V

c.1387A>G

1 paper

NM_005228.5

p.N466fs

c.1396_1397fs

2 papers

NM_005228.5

p.I462M

c.1386A>G

2 papers

NM_005228.5

p.N466D

c.1396A>G