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.L249V

c.745C>G

Surrounding Variants

1 paper

NM_005228.5

p.L249M

c.745C>A

1 paper

NM_005228.5

p.L249delFs

c.746delT

1 paper

NM_005228.5

p.C248*

c.744C>A

1 paper

NM_005228.5

p.C248W

c.744C>G

1 paper

NM_005228.5

p.L249P

c.746T>C

5 papers

NM_005228.5

p.C248Y

c.743G>A

2 papers

NM_005228.5

p.L249L

c.747G>A

1 paper

NM_005228.5

p.C248F

c.743G>T

1 paper

NM_005228.5

p.L249L

c.747G>T

1 paper

NM_005228.5

p.L249_V250Splc

c.747+1G>T

4 papers

NM_005228.5

p.C248R

c.742T>C

2 papers

NM_005228.5

p.C248delins

c.742_743delinsAT