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.P512P

c.1536C>T

Surrounding Variants

1 paper

NM_005228.5

p.P512L

c.1535C>T

1 paper

NM_005228.5

p.P512_E513delFs

c.1536_1537delCG

2 papers

NM_005228.5

p.E513K

c.1537G>A

3 papers

NM_005228.5

p.E513fs

c.1537_1538fs

1 paper

NM_005228.5

p.E513*

c.1537G>T

1 paper

NM_005228.5

p.E513G

c.1538A>G

1 paper

NM_005228.5

p.E513delFs

c.1539delG

2 papers

NM_005228.5

p.P512S

c.1534C>T

2 papers

NM_005228.5

p.E513D

c.1539G>C

2 papers

NM_005228.5

p.E513D

c.1539G>T

7 papers

NM_005228.5

p.S511Y

c.1532C>A

1 paper

NM_005228.5

p.S511C

c.1532C>G