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

4 papers

NM_005228.5

p.G485D

c.1454G>A

Surrounding Variants

4 papers

NM_005228.5

p.G485S

c.1453G>A

1 paper

NM_005228.5

p.G485R

c.1453G>C

2 papers

NM_005228.5

p.G485C

c.1453G>T

1 paper

NM_005228.5

p.Q486E

c.1456C>G

11 papers

NM_005228.5

p.Q486*

c.1456C>T

1 paper

NM_005228.5

p.S484S

c.1452C>T

1 paper

NM_005228.5

p.G485delFs

c.1454delG

1 paper

NM_005228.5

p.G485_Q486del2

c.1453_1457del6

1 paper

NM_005228.5

p.G485_S492delFs

c.1453_1475del23

1 paper

NM_005228.5

p.Q486P

c.1457A>C

4 papers

NM_005228.5

p.S484F

c.1451C>T

1 paper

NM_005228.5

p.S484_S492delins

c.1451_1475delinsA