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

7 papers

NM_005228.5

p.F795S

c.2384T>C

Surrounding Variants

2 papers

NM_005228.5

p.F795C

c.2384T>G

1 paper

NM_005228.5

p.F795delFs

c.2385delC

4 papers

NM_005228.5

p.F795L

c.2385C>A

4 papers

NM_005228.5

p.F795L

c.2385C>G

4 papers

NM_005228.5

p.F795L

c.2383T>C

2 papers

NM_005228.5

p.F795V

c.2383T>G

106 papers

NM_005228.5

p.G796S

c.2386G>A

34 papers

NM_005228.5

p.G796R

c.2386G>C

9 papers

NM_005228.5

p.G796C

c.2386G>T

2 papers

NM_005228.5

p.P794H

c.2381C>A

12 papers

NM_005228.5

p.P794L

c.2381C>T

48 papers

NM_005228.5

p.G796D

c.2387G>A