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

70 papers

NM_005228.5

p.R831H

c.2492G>A

Surrounding Variants

4 papers

NM_005228.5

p.R831L

c.2492G>T

1 paper

NM_005228.5

p.R831S

c.2491C>A

31 papers

NM_005228.5

p.R831C

c.2491C>T

17 papers

NM_005228.5

p.R832C

c.2494C>T

1 paper

NM_005228.5

p.D830A

c.2489A>C

20 papers

NM_005228.5

p.R832H

c.2495G>A

5 papers

NM_005228.5

p.R832L

c.2495G>T

6 papers

NM_005228.5

p.D830N

c.2488G>A

3 papers

NM_005228.5

p.D830Y

c.2488G>T

3 papers

NM_005228.5

p.E829D

c.2487G>C

3 papers

NM_005228.5

p.E829D

c.2487G>T

3 papers

NM_005228.5

p.L833M

c.2497T>A