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

1 paper

NM_005228.5

p.W608*

c.1823G>A

Surrounding Variants

1 paper

NM_005228.5

p.W608*

c.1824G>A

5 papers

NM_005228.5

p.W608C

c.1824G>C

4 papers

NM_005228.5

p.W608C

c.1824G>T

1 paper

NM_005228.5

p.K609delins

c.1825_1826delinsTT

2 papers

NM_005228.5

p.K609R

c.1826A>G

2 papers

NM_005228.5

p.K609M

c.1826A>T

3 papers

NM_005228.5

p.K609N

c.1827G>C

1 paper

NM_005228.5

p.V607insFs

c.1819_1820insC

1 paper

NM_005228.5

p.V607insFs

c.1819_1820insCA

1 paper

NM_005228.5

p.V607fs

c.1819_1820fs

3 papers

NM_005228.5

p.K609N

c.1827G>T

1 paper

NM_005228.5

p.Y610D

c.1828T>G