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

48 papers

NM_005228.5

p.V786M

c.2356G>A

Surrounding Variants

3 papers

NM_005228.5

p.V786L

c.2356G>C

3 papers

NM_005228.5

p.V786L

c.2356G>T

1 paper

NM_005228.5

p.V786fs

c.2356_2357fs

2 papers

NM_005228.5

p.T785T

c.2355C>T

1 paper

NM_005228.5

p.V786_T790del5

c.2356_2369del15

5 papers

NM_005228.5

p.V786A

c.2357T>C

1 paper

NM_005228.5

p.I789_M793ins1

c.2367_2378dup12

1 paper

NM_005228.5

p.I789_M793del0

c.2367_2378del12

3 papers

NM_005228.5

p.T785N

c.2354C>A

1 paper

NM_005228.5

p.T785S

c.2354C>G

11 papers

NM_005228.5

p.T785I

c.2354C>T

1 paper

NM_005228.5

p.V786V

c.2358G>T