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

677 papers

NM_005228.5

p.C240S

c.719G>C

Surrounding Variants

1003 papers

NM_005228.5

p.C240Y

c.719G>A

1 paper

NM_005228.5

p.C240F

c.719G>T

1 paper

NM_005228.5

p.C240_T241ins1

c.720_721insAGT

1 paper

NM_005228.5

p.T241fs

c.721_722fs

1 paper

NM_005228.5

p.T241A

c.721A>G

1 paper

NM_005228.5

p.T241S

c.721A>T

2 papers

NM_005228.5

p.T241K

c.722C>A

1 paper

NM_005228.5

p.T241R

c.722C>G

4 papers

NM_005228.5

p.T241I

c.722C>T

4 papers

NM_005228.5

p.G239D

c.716G>A

5 papers

NM_005228.5

p.G239A

c.716G>C

1 paper

NM_005228.5

p.T241_G242insFs

c.723_724ins8