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.K676N

c.2028G>C

Surrounding Variants

4 papers

NM_005228.5

p.K676K

c.2028G>A

2 papers

NM_005228.5

p.K676N

c.2028G>T

2 papers

NM_005228.5

p.K676R

c.2027A>G

11 papers

NM_005228.5

p.R677C

c.2029C>T

1 paper

NM_005228.5

p.R677delins

c.2029_2030delinsTT

9 papers

NM_005228.5

p.R677H

c.2030G>A

1 paper

NM_005228.5

p.R677L

c.2030G>T

2 papers

NM_005228.5

p.R675R

c.2025G>A

1 paper

NM_005228.5

p.T678P

c.2032A>C

14 papers

NM_005228.5

p.R675Q

c.2024G>A

1 paper

NM_005228.5

p.R675fs

c.2023_2024fs

1 paper

NM_005228.5

p.R675G

c.2023C>G