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.L799Q

c.2396T>A

Surrounding Variants

4 papers

NM_005228.5

p.L799P

c.2396T>C

3 papers

NM_005228.5

p.L799R

c.2396T>G

1 paper

NM_005228.5

p.L799M

c.2395C>A

1 paper

NM_005228.5

p.L799L

c.2397G>C

5 papers

NM_005228.5

p.D800N

c.2398G>A

1 paper

NM_005228.5

p.D800insFs

c.2399_2400insA

1 paper

NM_005228.5

p.D800Y

c.2398G>T

1 paper

NM_005228.5

p.D800fs

c.2398_2399fs

1 paper

NM_005228.5

p.D800A

c.2399A>C

7 papers

NM_005228.5

p.D800G

c.2399A>G

12 papers

NM_005228.5

p.L798H

c.2393T>A

1 paper

NM_005228.5

p.L798P

c.2393T>C