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

46 papers

NM_005228.5

p.H870R

c.2609A>G

Surrounding Variants

1 paper

NM_005228.5

p.H870N

c.2608C>A

13 papers

NM_005228.5

p.H870Y

c.2608C>T

3 papers

NM_005228.5

p.H870Q

c.2610T>A

3 papers

NM_005228.5

p.H870Q

c.2610T>G

1 paper

NM_005228.5

p.Y869*

c.2607C>A

1 paper

NM_005228.5

p.Y869*

c.2607C>G

22 papers

NM_005228.5

p.A871T

c.2611G>A

5 papers

NM_005228.5

p.Y869C

c.2606A>G

2 papers

NM_005228.5

p.Y869F

c.2606A>T

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