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

6 papers

NM_005228.5

p.A508V

c.1523C>T

Surrounding Variants

1 paper

NM_005228.5

p.A508T

c.1522G>A

1 paper

NM_005228.5

p.C506C

c.1518C>T

4 papers

NM_005228.5

p.C506Y

c.1517G>A

1 paper

NM_005228.5

p.C510F

c.1529G>T

1 paper

NM_005228.5

p.C510C

c.1530C>T

1 paper

NM_005228.5

p.C506_L509delFs

c.1517_1527del11

1 paper

NM_005228.5

p.V505V

c.1515C>A

1 paper

NM_005228.5

p.P512insFs

c.1536dupC

7 papers

NM_005228.5

p.S511Y

c.1532C>A

1 paper

NM_005228.5

p.S511C

c.1532C>G

3 papers

NM_005228.5

p.S511F

c.1532C>T

2 papers

NM_005228.5

p.V505G

c.1514T>G