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

1 paper

NM_005228.5

p.V819E

c.2456T>A

Surrounding Variants

7 papers

NM_005228.5

p.V819A

c.2456T>C

10 papers

NM_005228.5

p.V819V

c.2457G>A

1 paper

NM_005228.5

p.V819M

c.2455G>A

1 paper

NM_005228.5

p.Q820K

c.2458C>A

3 papers

NM_005228.5

p.Q820*

c.2458C>T

1 paper

NM_005228.5

p.Q820insFs

c.2460dupG

3 papers

NM_005228.5

p.Q820R

c.2459A>G

1 paper

NM_005228.5

p.Q820L

c.2459A>T

4 papers

NM_005228.5

p.C818Y

c.2453G>A

1 paper

NM_005228.5

p.C818S

c.2453G>C

2 papers

NM_005228.5

p.C818F

c.2453G>T

1 paper

NM_005228.5

p.C818S

c.2452T>A