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

77 papers

NM_005228.5

p.E746_S752delins

c.2237_2255delinsT

Surrounding Variants

1 paper

NM_005228.5

p.E746ins6

c.2237_2238ins18

1 paper

NM_005228.5

p.E746ins6

c.2237_2238ins18

1 paper

NM_005228.5

p.E746insFs

c.2237_2238insT

5 papers

NM_005228.5

p.E746A

c.2237A>C

17 papers

NM_005228.5

p.E746G

c.2237A>G

54 papers

NM_005228.5

p.E746V

c.2237A>T

8 papers

NM_005228.5

p.L747del1

c.2239_2240delTTA

2 papers

NM_005228.5

p.E746_L747delins

c.2237_2240delinsTTCC

4 papers

NM_005228.5

p.E746_A750delins

c.2237_2248delinsCAC

1 paper

NM_005228.5

p.E746_A750delins

c.2237_2248delinsCCC

1 paper

NM_005228.5

p.E746_A750delins

c.2237_2248delinsTCC

18 papers

NM_005228.5

p.L747_A750del4

c.2239_2249del12