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

3 papers

NM_005228.5

p.Q701K

c.2101C>A

Surrounding Variants

5 papers

NM_005228.5

p.Q701*

c.2101C>T

2 papers

NM_005228.5

p.Q701delFs

c.2102_2103delAA

1 paper

NM_005228.5

p.Q701_I706del0

c.2102_2116del15

6 papers

NM_005228.5

p.Q701R

c.2102A>G

21 papers

NM_005228.5

p.Q701L

c.2102A>T

2 papers

NM_005228.5

p.Q701_I706del0

c.2103_2117del15

4 papers

NM_005228.5

p.N700K

c.2100C>A

4 papers

NM_005228.5

p.N700K

c.2100C>G

5 papers

NM_005228.5

p.Q701_R705del0

c.2101_2115del15

1 paper

NM_005228.5

p.N700T

c.2099A>C

3 papers

NM_005228.5

p.N700S

c.2099A>G

3 papers

NM_005228.5

p.Q701_L703del0

c.2101_2109del9