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

8 papers

NM_005228.5

p.A755V

c.2264C>T

Surrounding Variants

17 papers

NM_005228.5

p.A755D

c.2264C>A

2 papers

NM_005228.5

p.N756_K757ins0

c.2268_2270dupCAA

15 papers

NM_005228.5

p.A755G

c.2264C>G

2 papers

NM_005228.5

p.A755A

c.2265C>G

2 papers

NM_005228.5

p.A755A

c.2265C>T

5 papers

NM_005228.5

p.A755T

c.2263G>A

1 paper

NM_005228.5

p.A755P

c.2263G>C

1 paper

NM_005228.5

p.A755Fs

c.2263delinsCAACATFs

1 paper

NM_005228.5

p.A755fs

c.2263_2264fs

4 papers

NM_005228.5

p.A755S

c.2263G>T

1 paper

NM_005228.5

p.A755delFs

c.2265delC

2 papers

NM_005228.5

p.N756fs

c.2266_2267fs