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.M825K

c.2474T>A

Surrounding Variants

2 papers

NM_005228.5

p.M825T

c.2474T>C

3 papers

NM_005228.5

p.M825R

c.2474T>G

2 papers

NM_005228.5

p.M825L

c.2473A>C

2 papers

NM_005228.5

p.M825L

c.2473A>T

1 paper

NM_005228.5

p.M825fs

c.2473_2474fs

5 papers

NM_001346897.2

p.M780I

c.2340G>A

NM_005228.5

p.M825I

c.2475G>A

5 papers

NM_001346897.2

p.M780I

c.2340G>C

NM_005228.5

p.M825I

c.2475G>C

5 papers

NM_001346897.2

p.M780I

c.2340G>T

NM_005228.5

p.M825I

c.2475G>T

2 papers

NM_005228.5

p.N826H

c.2476A>C

3 papers

NM_005228.5

p.N826D

c.2476A>G

6 papers

NM_005228.5

p.N826Y

c.2476A>T

4 papers

NM_005228.5

p.G824G

c.2472C>T