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

5 papers

NM_005228.5

p.E245K

c.733G>A

Surrounding Variants

2 papers

NM_005228.5

p.E245Q

c.733G>C

1 paper

NM_005228.5

p.E245*

c.733G>T

3 papers

NM_005228.5

p.R244Q

c.731G>A

2 papers

NM_005228.5

p.E245D

c.735G>C

1 paper

NM_005228.5

p.E245D

c.735G>T

1 paper

NM_005228.5

p.S246_C248del3

c.736_743del9

1 paper

NM_005228.5

p.S246fs

c.736_737fs

3 papers

NM_005228.5

p.S246R

c.736A>C

1 paper

NM_005228.5

p.R244fs

c.730_731fs

3 papers

NM_005228.5

p.R244W

c.730C>T

1 paper

NM_005228.5

p.P243P

c.729C>T

2 papers

NM_005228.5

p.S246R

c.738C>A