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.V802D

c.2405T>A

Surrounding Variants

5 papers

NM_005228.5

p.V802A

c.2405T>C

1 paper

NM_005228.5

p.V802G

c.2405T>G

1 paper

NM_005228.5

p.V802V

c.2406C>G

1 paper

NM_005228.5

p.V802V

c.2406C>T

19 papers

NM_005228.5

p.V802I

c.2404G>A

1 paper

NM_005228.5

p.V802fs

c.2404_2405fs

7 papers

NM_005228.5

p.V802F

c.2404G>T

1 paper

NM_005228.5

p.V802delFs

c.2405delT

1 paper

NM_005228.5

p.R803R

c.2407C>A

1 paper

NM_005228.5

p.R803G

c.2407C>G

14 papers

NM_005228.5

p.R803W

c.2407C>T

1 paper

NM_005228.5

p.Y801*

c.2403T>A