Varaico: Literature-Extracted Genetic Variants

ERBB4

1,485 papers

RefSeq Summary

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a trans...

Pfam Domains

Recep_L_domainaa 55–167UCSCReceptor L domain

Furin-likeaa 176–335UCSCFurin-like cysteine rich region

Recep_L_domainaa 358–478UCSCReceptor L domain

GF_recep_IVaa 502–634UCSCGrowth factor receptor domain IV

TM_ErbB1aa 653–688UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

PK_Tyr_Ser-Thraa 718–974UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 4

HGNC Alias Symbols

ALS19; HER4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005235.3

p.S227G

c.679A>G

Surrounding Variants

1 paper

NM_005235.3

p.S227C

c.679A>T

4 papers

NM_005235.3

p.V226I

c.676G>A

2 papers

NM_005235.3

p.Y225F

c.674A>T

1 paper

NM_005235.3

p.Y225H

c.673T>C

1 paper

NM_005235.3

p.C229fs

c.685_686fs

2 papers

NM_005235.3

p.C229Y

c.686G>A

2 papers

NM_005235.3

p.P224L

c.671C>T

1 paper

NM_005235.3

p.C229fs

c.685_686fs

2 papers

NM_005235.3

p.P224H

c.671C>A

1 paper

NM_005235.3

p.C229*

c.687C>A

1 paper

NM_005235.3

p.C229_C230insFs

c.687_688insCC

1 paper

NM_005235.3

p.C230R

c.688T>C