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.M600_G601del2

c.1798_1802del6

Surrounding Variants

1 paper

NM_005228.5

p.V599_M600ins1

c.1797_1798insACA

1 paper

NM_005228.5

p.V599_M600ins1

c.1797_1798insACT

3 papers

NM_005228.5

p.M600V

c.1798A>G

1 paper

NM_005228.5

p.M600_G601del1

c.1799_1801delTGG

1 paper

NM_005228.5

p.V599D

c.1796T>A

1 paper

NM_005228.5

p.V599A

c.1796T>C

1 paper

NM_005228.5

p.V599G

c.1796T>G

1 paper

NM_005228.5

p.V599ins1

c.1796_1797insTAC

1 paper

NM_005228.5

p.V599I

c.1795G>A

39 papers

NM_005228.5

p.M600K

c.1799T>A

7 papers

NM_005228.5

p.M600T

c.1799T>C

1 paper

NM_005228.5

p.M600R

c.1799T>G