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.R836P

c.2507G>C

Surrounding Variants

15 papers

NM_005228.5

p.R836H

c.2507G>A

3 papers

NM_005228.5

p.R836L

c.2507G>T

4 papers

NM_005228.5

p.R836S

c.2506C>A

1 paper

NM_005228.5

p.D837insFs

c.2509_2510insG

1 paper

NM_005228.5

p.R836_D837insC

c.2506_2510ins3

2 papers

NM_005228.5

p.R836G

c.2506C>G

31 papers

NM_005228.5

p.R836C

c.2506C>T

20 papers

NM_005228.5

p.R836R

c.2508C>T

1 paper

NM_005228.5

p.D837delFs

c.2509delG

1 paper

NM_005228.5

p.H835Q

c.2505C>A

1 paper

NM_005228.5

p.H835Q

c.2505C>G

20 papers

NM_005228.5

p.D837N

c.2509G>A