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.Y891Y

c.2673T>C

Surrounding Variants

1 paper

NM_005228.5

p.T892insFs

c.2674_2675insA

1 paper

NM_005228.5

p.T892fs

c.2674_2675fs

4 papers

NM_005228.5

p.Y891C

c.2672A>G

1 paper

NM_005228.5

p.T892A

c.2674A>G

1 paper

NM_005228.5

p.T892S

c.2674A>T

1 paper

NM_005228.5

p.T892S

c.2675C>G

2 papers

NM_005228.5

p.T892I

c.2675C>T

6 papers

NM_005228.5

p.Y891D

c.2671T>G

1 paper

NM_005228.5

p.I890M

c.2670C>G

1 paper

NM_005228.5

p.H893Y

c.2677C>T

1 paper

NM_005228.5

p.I890_Y891ins7

c.2668_2672ins21

3 papers

NM_005228.5

p.H893R

c.2678A>G