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.P877A

c.2629C>G

Surrounding Variants

1 paper

NM_005228.5

p.P877S

c.2629C>T

1 paper

NM_005228.5

p.P877L

c.2630C>T

1 paper

NM_005228.5

p.V876G

c.2627T>G

1 paper

NM_005228.5

p.I878T

c.2633T>C

1 paper

NM_005228.5

p.I878S

c.2633T>G

1 paper

NM_005228.5

p.K875_V876Splc

c.2626-2A>C

1 paper

NM_005228.5

p.I878I

c.2634C>T

1 paper

NM_005228.5

p.K879fs

c.2635_2636fs

1 paper

NM_005228.5

p.K879R

c.2636A>G

1 paper

NM_005228.5

p.W880*

c.2639G>A

1 paper

NM_005228.5

p.K875_V876Splc

c.2626-8A>C

1 paper

NM_005228.5

p.W880*

c.2640G>A