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.S239L

c.716C>T

Surrounding Variants

1 paper

NM_005235.3

p.S239P

c.715T>C

1 paper

NM_005235.3

p.S239T

c.715T>A

3 papers

NM_005235.3

p.G240*

c.718G>T

4 papers

NM_005235.3

p.G240R

c.718G>C

5 papers

NM_005235.3

p.G240R

c.718G>A

2 papers

NM_005235.3

p.C238F

c.713G>T

1 paper

NM_005235.3

p.G240V

c.719G>T

8 papers

NM_005235.3

p.G240A

c.719G>C

3 papers

NM_005235.3

p.C238S

c.713G>C

12 papers

NM_005235.3

p.G240E

c.719G>A

1 paper

NM_005235.3

p.C238R

c.712T>C

4 papers

NM_005235.3

p.C238S

c.712T>A