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.M1insFs

c.3dupG

Surrounding Variants

4 papers

NM_005228.5

p.M1K

c.2T>A

3 papers

NM_005228.5

p.M1T

c.2T>C

1 paper

NM_005228.5

p.M1R

c.2T>G

1 paper

NM_005228.5

p.R2_A7delFs

c.4_19del16

1 paper

NM_005228.5

p.M1_A7delFs

c.3_19del17

1 paper

NM_005228.5

p.M1insFs

c.1_2insC

1 paper

NM_005228.5

p.M1insFs

c.1_2insT

3 papers

NM_005228.5

p.M1L

c.1A>C

4 papers

NM_005228.5

p.M1V

c.1A>G

3 papers

NM_005228.5

p.M1L

c.1A>T

1 paper

NM_005228.5

p.M1_A7del0

c.2_19del18

3 papers

NM_005228.5

p.M1I

c.3G>A