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

2 papers

NM_005228.5

p.I744insFs

c.2232dupC

Surrounding Variants

9 papers

NM_005228.5

p.I744T

c.2231T>C

2 papers

NM_005228.5

p.I744ins6

c.2231_2232ins18

1 paper

NM_005228.5

p.K745_T751delFs

c.2235_2251del17

1 paper

NM_005228.5

p.I744_A750del0

c.2232_2249del18

16 papers

NM_005228.5

p.I744V

c.2230A>G

1 paper

NM_005228.5

p.I744F

c.2230A>T

1 paper

NM_005228.5

p.I744delFs

c.2231delT

1 paper

NM_005228.5

p.I744_E749delins

c.2230_2246delinsCTTAAGAG

8 papers

NM_005228.5

p.I744_A750delins

c.2230_2249delinsGTCAA

1 paper

NM_005228.5

p.I744_T751delFs

c.2231_2252del22

2 papers

NM_005228.5

p.K745insFs

c.2234dupA

1 paper

NM_005228.5

p.I744_K745ins6

c.2232_2233ins18