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

7 papers

NM_005228.5

p.L688P

c.2063T>C

Surrounding Variants

2 papers

NM_005228.5

p.L688F

c.2062C>T

1 paper

NM_005228.5

p.L688_L692delFs

c.2064_2076del13

28 papers

NM_005228.5

p.V689M

c.2065G>A

29 papers

NM_005228.5

p.V689L

c.2065G>C

30 papers

NM_005228.5

p.V689L

c.2065G>T

1 paper

NM_005228.5

p.V689delins

c.2065_2067delinsATC

2 papers

NM_005228.5

p.V689delins

c.2065_2067delinsTTT

2 papers

NM_005228.5

p.V689A

c.2066T>C

1 paper

NM_005228.5

p.V689V

c.2067G>A

1 paper

NM_005228.5

p.E687_L688Splc

c.2062-4C>A

4 papers

NM_005228.5

p.E690K

c.2068G>A

1 paper

NM_005228.5

p.E690A

c.2069A>C