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

3 papers

NM_005228.5

p.Y827F

c.2480A>T

Surrounding Variants

2 papers

NM_005228.5

p.Y827C

c.2480A>G

3 papers

NM_005228.5

p.L828_L833del0

c.2483_2497del15

3 papers

NM_005228.5

p.Y827*

c.2481C>A

2 papers

NM_005228.5

p.Y827*

c.2481C>G

1 paper

NM_005228.5

p.N826K

c.2478C>A

2 papers

NM_005228.5

p.N826K

c.2478C>G

2 papers

NM_005228.5

p.L828M

c.2482T>A

1 paper

NM_005228.5

p.L828V

c.2482T>G

1 paper

NM_005228.5

p.L828_V834del0

c.2484_2501del18

35 papers

NM_005228.5

p.N826S

c.2477A>G

1 paper

NM_005228.5

p.N826I

c.2477A>T

2 papers

NM_005228.5

p.N826H

c.2476A>C