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

26 papers

NM_005228.5

p.E709Q

c.2125G>C

Surrounding Variants

309 papers

NM_005228.5

p.E709K

c.2125G>A

1 paper

NM_005228.5

p.E709fs

c.2125_2126fs

122 papers

NM_005228.5

p.E709*

c.2125G>T

1 paper

NM_005228.5

p.E709delins

c.2125_2127delinsCAT

3 papers

NM_005228.5

p.E709_T710del1

c.2126_2128delAAA

271 papers

NM_005228.5

p.E709A

c.2126A>C

138 papers

NM_005228.5

p.E709G

c.2126A>G

79 papers

NM_005228.5

p.E709V

c.2126A>T

40 papers

NM_005228.5

p.E709_T710del1

c.2127_2129delAAC

1 paper

NM_005228.5

p.K708K

c.2124G>A

5 papers

NM_005228.5

p.K708N

c.2124G>C

5 papers

NM_005228.5

p.K708N

c.2124G>T