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.K28E

c.82A>G

Surrounding Variants

5 papers

NM_005228.5

p.K28Q

c.82A>C

1 paper

NM_005228.5

p.E27D

c.81A>C

8 papers

NM_005228.5

p.K28M

c.83A>T

1 paper

NM_005228.5

p.E27insFs

c.80_81insT

2 papers

NM_005228.5

p.E27G

c.80A>G

2 papers

NM_005228.5

p.K28N

c.84G>C

1 paper

NM_005228.5

p.K28_K29insFs

c.84_85insT

3 papers

NM_005228.5

p.K28N

c.84G>T

1 paper

NM_005228.5

p.E27K

c.79G>A

1 paper

NM_005228.5

p.E27_K28insGTA

c.79_83ins9

2 papers

NM_005228.5

p.E27*

c.79G>T

1 paper

NM_005228.5

p.K29R

c.86A>G