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.L887fs

c.2659_2660fs

Surrounding Variants

2 papers

NM_005228.5

p.I886F

c.2656A>T

1 paper

NM_005228.5

p.I886_L887delFs

c.2658_2659delTT

1 paper

NM_005228.5

p.H888L

c.2663A>T

2 papers

NM_005228.5

p.S885_I886delins

c.2655_2656delinsCT

1 paper

NM_005228.5

p.S885*

c.2654C>A

1 paper

NM_005228.5

p.H888Q

c.2664C>A

2 papers

NM_005228.5

p.S885*

c.2654C>G

1 paper

NM_005228.5

p.H888Q

c.2664C>G

3 papers

NM_005228.5

p.S885L

c.2654C>T

6 papers

NM_005228.5

p.R889G

c.2665A>G

1 paper

NM_005228.5

p.R889*

c.2665A>T

1 paper

NM_005228.5

p.E884E

c.2652A>G