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

7 papers

NM_005228.5

p.Q791P

c.2372A>C

Surrounding Variants

4 papers

NM_005228.5

p.Q791R

c.2372A>G

7 papers

NM_005228.5

p.Q791L

c.2372A>T

2 papers

NM_005228.5

p.Q791E

c.2371C>G

6 papers

NM_005228.5

p.Q791*

c.2371C>T

2 papers

NM_005228.5

p.Q791fs

c.2371_2372fs

5 papers

NM_005228.5

p.Q791H

c.2373G>C

5 papers

NM_005228.5

p.Q791H

c.2373G>T

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.T790T

c.2370G>A