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

2 papers

NM_005228.5

p.S525A

c.1573T>G

Surrounding Variants

1 paper

NM_005228.5

p.S525Y

c.1574C>A

1 paper

NM_005228.5

p.V524A

c.1571T>C

3 papers

NM_005228.5

p.V524I

c.1570G>A

1 paper

NM_005228.5

p.V524F

c.1570G>T

2 papers

NM_005228.5

p.C526S

c.1576T>A

1 paper

NM_005228.5

p.C526G

c.1576T>G

3 papers

NM_005228.5

p.C526S

c.1577G>C

1 paper

NM_005228.5

p.C526*

c.1578C>A

1 paper

NM_005228.5

p.C526W

c.1578C>G

1 paper

NM_005228.5

p.C526C

c.1578C>T

1 paper

NM_005228.5

p.R527_N528insC

c.1579_1583ins3

3 papers

NM_005228.5

p.R527W

c.1579C>T