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

92 papers

NM_005228.5

p.R776C

c.2326C>T

Surrounding Variants

29 papers

NM_005228.5

p.R776S

c.2326C>A

1 paper

NM_005228.5

p.R776ins1

c.2326_2327ins3

2 papers

NM_005228.5

p.R776ins1

c.2326_2327insTAT

1 paper

NM_005228.5

p.R776ins1

c.2326_2327insTCT

5 papers

NM_005228.5

p.R776ins1

c.2326_2327insTGT

1 paper

NM_005228.5

p.R776ins1

c.2326_2327insTTT

39 papers

NM_005228.5

p.R776G

c.2326C>G

1 paper

NM_005228.5

p.R776delins

c.2326_2327delinsTC

1 paper

NM_005228.5

p.C775_R776ins4

c.2325_2326ins12

1 paper

NM_005228.5

p.C775_R776ins4

c.2325_2326ins12

193 papers

NM_005228.5

p.R776H

c.2327G>A

1 paper

NM_005228.5

p.R776P

c.2327G>C