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

18 papers

NM_005235.3

p.E317K

c.949G>A

Surrounding Variants

1 paper

NM_005235.3

p.E316D

c.948A>T

1 paper

NM_005235.3

p.E316D

c.948A>C

1 paper

NM_005235.3

p.N318D

c.952A>G

1 paper

NM_005235.3

p.N318S

c.953A>G

1 paper

NM_005235.3

p.G319W

c.955G>T

6 papers

NM_005235.3

p.G319R

c.955G>C

6 papers

NM_005235.3

p.G319R

c.955G>A

1 paper

NM_005235.3

p.V315I

c.943G>A

2 papers

NM_005235.3

p.G319V

c.956G>T

5 papers

NM_005235.3

p.G319E

c.956G>A

1 paper

NM_005235.3

p.E314Q

c.940G>C

2 papers

NM_005235.3

p.E314K

c.940G>A