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.Q32Q

c.96A>G

Surrounding Variants

1 paper

NM_005228.5

p.Q32_S35Fs

c.96_103delinsCFs

3 papers

NM_005228.5

p.Q32R

c.95A>G

2 papers

NM_005228.5

p.Q32L

c.95A>T

2 papers

NM_005228.5

p.Q32delins

c.95_96delinsTT

3 papers

NM_005228.5

p.G33S

c.97G>A

2 papers

NM_005228.5

p.G33_T34ins6

c.97_101ins18

1 paper

NM_005228.5

p.G33delins

c.97_98delinsAA

1 paper

NM_005228.5

p.G33D

c.98G>A

1 paper

NM_005228.5

p.G33A

c.98G>C

1 paper

NM_005228.5

p.C31*

c.93C>A

1 paper

NM_005228.5

p.G33_T34insFs

c.99_100insAA

1 paper

NM_005228.5

p.C31C

c.93C>T