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.K745insFs

c.2234dupA

Surrounding Variants

1 paper

NM_005228.5

p.I744_K745ins6

c.2232_2233ins18

1 paper

NM_005228.5

p.I744_K745ins6

c.2232_2233ins18

30 papers

NM_005228.5

p.I744M

c.2232C>G

1 paper

NM_005228.5

p.I744_K745delins

c.2232_2233delinsTG

1 paper

NM_005228.5

p.K745del1

c.2233_2234delAAG

1 paper

NM_005228.5

p.K745_E746delFs

c.2235_2238del4

1 paper

NM_005228.5

p.K745_R748del4

c.2233_2243del12

2 papers

NM_005228.5

p.K745_E749delFs

c.2233_2245del13

24 papers

NM_005228.5

p.K745_E749del5

c.2233_2246del15

2 papers

NM_005228.5

p.I744_A750delins

c.2232_2248delinsAAAATTCC

1 paper

NM_005228.5

p.I744_A750delins

c.2232_2248delinsTAAAATTC

3 papers

NM_005228.5

p.I744_A750delins

c.2232_2249delinsAAA