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

3 papers

NM_005228.5

p.V651L

c.1951G>C

Surrounding Variants

12 papers

NM_005228.5

p.V651M

c.1951G>A

2 papers

NM_005228.5

p.V651L

c.1951G>T

2 papers

NM_005228.5

p.M650I

c.1950G>A

1 paper

NM_005228.5

p.M650I

c.1950G>C

1 paper

NM_005228.5

p.M650I

c.1950G>T

1 paper

NM_005228.5

p.V651E

c.1952T>A

2 papers

NM_005228.5

p.V651A

c.1952T>C

1 paper

NM_005228.5

p.V651V

c.1953G>A

1 paper

NM_005228.5

p.M650L

c.1948A>C

1 paper

NM_005228.5

p.M650V

c.1948A>G

4 papers

NM_005228.5

p.G652R

c.1954G>A

3 papers

NM_005228.5

p.G652R

c.1954G>C