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

19 papers

NM_005228.5

p.R252P

c.755G>C

Surrounding Variants

15 papers

NM_005228.5

p.R252H

c.755G>A

1 paper

NM_005228.5

p.R252L

c.755G>T

1 paper

NM_005228.5

p.R252delins

c.755_756delinsCT

2 papers

NM_005228.5

p.R252S

c.754C>A

1 paper

NM_005228.5

p.R252fs

c.754_755fs

1 paper

NM_005228.5

p.R252G

c.754C>G

42 papers

NM_005228.5

p.R252C

c.754C>T

1 paper

NM_005228.5

p.K253E

c.757A>G

1 paper

NM_005228.5

p.K253_D256del0

c.759_767del9

1 paper

NM_005228.5

p.C251*

c.753C>A

1 paper

NM_005228.5

p.C251C

c.753C>T

1 paper

NM_005228.5

p.R252delFs

c.755_756delGC