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.C775insFs

c.2324_2325ins8

Surrounding Variants

22 papers

NM_005228.5

p.C775Y

c.2324G>A

2 papers

NM_005228.5

p.C775S

c.2324G>C

3 papers

NM_005228.5

p.C775_R776ins2

c.2325_2326ins6

3 papers

NM_005228.5

p.C775ins4

c.2324_2325ins12

3 papers

NM_005228.5

p.C775F

c.2324G>T

1 paper

NM_005228.5

p.C775_R776ins4

c.2325_2326ins12

1 paper

NM_005228.5

p.C775_R776ins4

c.2325_2326ins12

2 papers

NM_005228.5

p.C775S

c.2323T>A

4 papers

NM_005228.5

p.C775R

c.2323T>C

3 papers

NM_005228.5

p.C775_R776ins4

c.2325_2326ins12

29 papers

NM_005228.5

p.R776S

c.2326C>A

1 paper

NM_005228.5

p.R776ins1

c.2326_2327ins3