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.L933*

c.2798T>A

Surrounding Variants

1 paper

NM_005235.3

p.L933*

c.2798T>G

1 paper

NM_005235.3

p.L933S

c.2798T>C

1 paper

NM_005235.3

p.L933F

c.2799A>T

1 paper

NM_005235.3

p.L933F

c.2799A>C

1 paper

NM_005235.3

p.E934*

c.2800G>T

4 papers

NM_005235.3

p.E934K

c.2800G>A

1 paper

NM_005235.3

p.E934V

c.2801A>T

1 paper

NM_005235.3

p.D931E

c.2793T>G

2 papers

NM_005235.3

p.D931E

c.2793T>A

1 paper

NM_005235.3

p.K935E

c.2803A>G

15 papers

NM_005235.3

p.K935I

c.2804A>T

2 papers

NM_005235.3

p.K935R

c.2804A>G