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

2 papers

NM_005235.3

p.S449Y

c.1346C>A

Surrounding Variants

4 papers

NM_005235.3

p.S449F

c.1346C>T

1 paper

NM_005235.3

p.S449P

c.1345T>C

2 papers

NM_005235.3

p.Q448H

c.1344G>T

2 papers

NM_005235.3

p.Q448H

c.1344G>C

1 paper

NM_005235.3

p.L450P

c.1349T>C

1 paper

NM_005235.3

p.E452*

c.1354G>T

1 paper

NM_005235.3

p.Q446H

c.1338G>T

1 paper

NM_005235.3

p.Q446H

c.1338G>C

30 papers

NM_005235.3

p.E452K

c.1354G>A

2 papers

NM_005235.3

p.I453F

c.1357A>T

1 paper

NM_005235.3

p.L445L

c.1333C>T

2 papers

NM_005235.3

p.S454C

c.1360A>T