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

36 papers

NM_005228.5

p.E884K

c.2650G>A

Surrounding Variants

1 paper

NM_005228.5

p.E884V

c.2651A>T

1 paper

NM_005228.5

p.L883L

c.2649G>A

1 paper

NM_005228.5

p.L883F

c.2649G>C

1 paper

NM_005228.5

p.L883F

c.2649G>T

1 paper

NM_005228.5

p.E884E

c.2652A>G

1 paper

NM_005228.5

p.L883S

c.2648T>C

1 paper

NM_005228.5

p.L883M

c.2647T>A

3 papers

NM_005228.5

p.L883V

c.2647T>G

1 paper

NM_005228.5

p.A882A

c.2646A>T

1 paper

NM_005228.5

p.S885*

c.2654C>A

2 papers

NM_005228.5

p.S885*

c.2654C>G

3 papers

NM_005228.5

p.S885L

c.2654C>T