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

14 papers

NM_005228.5

p.L703P

c.2108T>C

Surrounding Variants

1 paper

NM_005228.5

p.L703H

c.2108T>A

3 papers

NM_005228.5

p.L703I

c.2107C>A

12 papers

NM_005228.5

p.L703V

c.2107C>G

9 papers

NM_005228.5

p.L703F

c.2107C>T

1 paper

NM_005228.5

p.L704M

c.2110T>A

4 papers

NM_005228.5

p.A702D

c.2105C>A

12 papers

NM_005228.5

p.A702V

c.2105C>T

1 paper

NM_005228.5

p.A702_R705delFs

c.2106_2115del10

1 paper

NM_005228.5

p.L704S

c.2111T>C

2 papers

NM_005228.5

p.L704W

c.2111T>G

5 papers

NM_005228.5

p.A702T

c.2104G>A

3 papers

NM_005228.5

p.L704F

c.2112G>C