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.T19I

c.56C>T

Surrounding Variants

4 papers

NM_005235.3

p.T19A

c.55A>G

1 paper

NM_005235.3

p.V20I

c.58G>A

1 paper

NM_005235.3

p.V20G

c.59T>G

1 paper

NM_005235.3

p.A17V

c.50C>T

1 paper

NM_005235.3

p.A17G

c.50C>G

2 papers

NM_005235.3

p.A16V

c.47C>T

1 paper

NM_005235.3

p.P22_S23insFs

c.66_67insG

1 paper

NM_005235.3

p.S23R

c.67A>C

1 paper

NM_005235.3

p.P22delFs

c.65_66delGG

1 paper

NM_005235.3

p.S23R

c.69C>G

1 paper

NM_005235.3

p.S23_D24ins3

c.69_70ins9

1 paper

NM_005235.3

p.S23R

c.69C>A