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.E872Q

c.2614G>C

Surrounding Variants

12 papers

NM_005228.5

p.E872K

c.2614G>A

6 papers

NM_005228.5

p.E872G

c.2615A>G

25 papers

NM_005228.5

p.A871E

c.2612C>A

66 papers

NM_005228.5

p.A871G

c.2612C>G

10 papers

NM_005228.5

p.A871V

c.2612C>T

1 paper

NM_005228.5

p.A871delins

c.2612_2613delinsGC

1 paper

NM_005228.5

p.E872_G873del1

c.2615_2617delAAG

22 papers

NM_005228.5

p.A871T

c.2611G>A

17 papers

NM_005228.5

p.G873R

c.2617G>A

16 papers

NM_005228.5

p.G873R

c.2617G>C

1 paper

NM_005228.5

p.G873ins2

c.2617_2618ins6

1 paper

NM_005228.5

p.G873*

c.2617G>T