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

59 papers

NM_005228.5

p.L792H

c.2375T>A

Surrounding Variants

23 papers

NM_005228.5

p.L792P

c.2375T>C

NM_001346897.2

p.L747P

c.2240T>C

6 papers

NM_005228.5

p.L792R

c.2375T>G

1 paper

NM_005228.5

p.L792I

c.2374C>A

14 papers

NM_005228.5

p.L792V

c.2374C>G

68 papers

NM_005228.5

p.L792F

c.2374C>T

1 paper

NM_005228.5

p.L792fs

c.2374_2375fs

3 papers

NM_005228.5

p.M793L

c.2377A>C

1 paper

NM_005228.5

p.M793V

c.2377A>G

3 papers

NM_005228.5

p.M793L

c.2377A>T

1 paper

NM_005228.5

p.M793_L798del0

c.2379_2393del15

5 papers

NM_005228.5

p.Q791H

c.2373G>C

5 papers

NM_005228.5

p.Q791H

c.2373G>T