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.H773_V774ins4

c.2319_2320ins12

Surrounding Variants

1 paper

NM_005228.5

p.H773ins1

c.2318_2319insACC

2 papers

NM_005228.5

p.H773insFs

c.2319dupC

1 paper

NM_005228.5

p.H773_V774insFs

c.2319_2320ins4

1 paper

NM_005228.5

p.H773_V774ins2

c.2319_2320ins6

1 paper

NM_005228.5

p.H773ins2

c.2318_2319ins6

1 paper

NM_005228.5

p.H773ins3

c.2318_2319ins9

3 papers

NM_005228.5

p.H773P

c.2318A>C

46 papers

NM_005228.5

p.H773R

c.2318A>G

63 papers

NM_005228.5

p.H773L

c.2318A>T

1 paper

NM_005228.5

p.H773_V774delins

c.2318_2320delinsTAA

7 papers

NM_005228.5

p.H773_V774delins

c.2318_2320delinsTCA

2 papers

NM_005228.5

p.H773Q

c.2319C>A