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

2 papers

NM_005228.5

p.C558Y

c.1673G>A

Surrounding Variants

1 paper

NM_005228.5

p.C558R

c.1672T>C

1 paper

NM_005228.5

p.C558delFs

c.1673delG

1 paper

NM_005228.5

p.Q557Q

c.1671G>A

1 paper

NM_005228.5

p.C558del1

c.1672_1673delTGC

1 paper

NM_005228.5

p.H559Q

c.1677C>A

1 paper

NM_005228.5

p.H559Q

c.1677C>G

1 paper

NM_005228.5

p.Q557*

c.1669C>T

1 paper

NM_005228.5

p.P560_M567del8

c.1678_1700del24

1 paper

NM_005228.5

p.I556M

c.1668A>G

2 papers

NM_005228.5

p.P560T

c.1678C>A

1 paper

NM_005228.5

p.P560Q

c.1679C>A

2 papers

NM_005228.5

p.I556K

c.1667T>A