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

4 papers

NM_005228.5

p.A17T

c.49G>A

Surrounding Variants

4 papers

NM_005228.5

p.A17V

c.50C>T

1 paper

NM_005228.5

p.A16A

c.48T>C

1 paper

NM_005228.5

p.A16_A17ins1

c.48_49insTGG

1 paper

NM_005228.5

p.A16D

c.47C>A

1 paper

NM_005228.5

p.A16V

c.47C>T

1 paper

NM_005228.5

p.A17A

c.51G>A

1 paper

NM_005228.5

p.A17A

c.51G>C

1 paper

NM_005228.5

p.L18_C19del2

c.52_56del6

2 papers

NM_005228.5

p.A16T

c.46G>A

1 paper

NM_005228.5

p.L15L

c.45G>A

1 paper

NM_005228.5

p.L18P

c.53T>C

1 paper

NM_005228.5

p.C19del1

c.55_56delTGC