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.L707L

c.2121G>A

Surrounding Variants

8 papers

NM_005228.5

p.L707F

c.2121G>C

8 papers

NM_005228.5

p.L707F

c.2121G>T

5 papers

NM_005228.5

p.K708E

c.2122A>G

7 papers

NM_005228.5

p.L707S

c.2120T>C

11 papers

NM_005228.5

p.L707W

c.2120T>G

1 paper

NM_005228.5

p.K708_E709delFs

c.2123_2126del4

1 paper

NM_005228.5

p.K708T

c.2123A>C

4 papers

NM_005228.5

p.K708R

c.2123A>G

5 papers

NM_005228.5

p.K708M

c.2123A>T

1 paper

NM_005228.5

p.I706I

c.2118C>A

1 paper

NM_005228.5

p.I706_L707insFs

c.2118_2119ins7

1 paper

NM_005228.5

p.I706M

c.2118C>G