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.G870R

c.2608G>C

Surrounding Variants

1 paper

NM_005235.3

p.G870*

c.2608G>T

1 paper

NM_005235.3

p.G870R

c.2608G>A

1 paper

NM_005235.3

p.E869_G870insT

c.2605_2609ins3

1 paper

NM_005235.3

p.D871H

c.2611G>C

2 papers

NM_005235.3

p.D871N

c.2611G>A

1 paper

NM_005235.3

p.L868F

c.2604G>T

2 papers

NM_005235.3

p.L868F

c.2604G>C

2 papers

NM_005235.3

p.D871G

c.2612A>G

1 paper

NM_005235.3

p.E872*

c.2614G>T

22 papers

NM_005235.3

p.E872K

c.2614G>A

1 paper

NM_005235.3

p.E872V

c.2615A>T

1 paper

NM_005235.3

p.E872G

c.2615A>G