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.Q849H

c.2547G>C

Surrounding Variants

1 paper

NM_005228.5

p.Q849Q

c.2547G>A

3 papers

NM_005228.5

p.Q849H

c.2547G>T

1 paper

NM_005228.5

p.Q849_H850delins

c.2547_2548delinsTA

4 papers

NM_005228.5

p.Q849R

c.2546A>G

7 papers

NM_005228.5

p.Q849L

c.2546A>T

7 papers

NM_005228.5

p.H850N

c.2548C>A

1 paper

NM_005228.5

p.H850insFs

c.2549_2550insA

1 paper

NM_005228.5

p.H850_I853ins1

c.2549_2557dup9

6 papers

NM_005228.5

p.H850D

c.2548C>G

9 papers

NM_005228.5

p.H850Y

c.2548C>T

1 paper

NM_005228.5

p.H850delFs

c.2549delA

1 paper

NM_005228.5

p.H850fs

c.2548_2549fs