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

8 papers

NM_005228.5

p.V774ins1

c.2320_2321insCAC

Surrounding Variants

179 papers

NM_005228.5

p.V774M

c.2320G>A

11 papers

NM_005228.5

p.V774L

c.2320G>C

1 paper

NM_005228.5

p.V774insFs

c.2320_2321ins4

3 papers

NM_005228.5

p.V774_C775insHV

c.2320_2324ins6

1 paper

NM_005228.5

p.V774_C775insTCG

c.2320_2324ins9

2 papers

NM_005228.5

p.V774insFs

c.2321dupT

12 papers

NM_005228.5

p.V774L

c.2320G>T

2 papers

NM_005228.5

p.H773Q

c.2319C>A

2 papers

NM_005228.5

p.H773delins

c.2319delinsACAT

4 papers

NM_005228.5

p.H773_V774ins1

c.2319_2320insCAG

1 paper

NM_005228.5

p.H773_V774ins3

c.2319_2320ins9

1 paper

NM_005228.5

p.H773_V774ins2

c.2319_2320ins6