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.T710P

c.2128A>C

Surrounding Variants

2 papers

NM_005228.5

p.T710A

c.2128A>G

4 papers

NM_005228.5

p.T710S

c.2128A>T

11 papers

NM_005228.5

p.E709D

c.2127A>C

12 papers

NM_005228.5

p.E709D

c.2127A>T

2 papers

NM_005228.5

p.T710del1

c.2128_2129delACT

1 paper

NM_005228.5

p.E709_T710delins

c.2127_2130delinsC

2 papers

NM_005228.5

p.T710N

c.2129C>A

3 papers

NM_005228.5

p.T710S

c.2129C>G

4 papers

NM_005228.5

p.T710I

c.2129C>T

271 papers

NM_005228.5

p.E709A

c.2126A>C

138 papers

NM_005228.5

p.E709G

c.2126A>G

79 papers

NM_005228.5

p.E709V

c.2126A>T