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

67 papers

NM_005228.5

p.S720F

c.2159C>T

Surrounding Variants

1 paper

NM_005228.5

p.S720Y

c.2159C>A

1 paper

NM_005228.5

p.G721ins3

c.2161_2162ins9

9 papers

NM_005228.5

p.S720C

c.2159C>G

4 papers

NM_005228.5

p.S720T

c.2158T>A

38 papers

NM_005228.5

p.S720P

c.2158T>C

7 papers

NM_005228.5

p.S720A

c.2158T>G

1 paper

NM_005228.5

p.S720_G721insAGT

c.2158_2162ins9

1 paper

NM_005228.5

p.S720delFs

c.2160delC

1 paper

NM_005228.5

p.S720fs

c.2158_2159fs

24 papers

NM_005228.5

p.G721S

c.2161G>A

5 papers

NM_005228.5

p.G721R

c.2161G>C

2 papers

NM_005228.5

p.G721C

c.2161G>T