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

6 papers

NM_005235.3

p.I910V

c.2728A>G

Surrounding Variants

1 paper

NM_005235.3

p.I910T

c.2729T>C

1 paper

NM_005235.3

p.T909S

c.2726C>G

1 paper

NM_005235.3

p.T909S

c.2725A>T

1 paper

NM_005235.3

p.W911L

c.2732G>T

2 papers

NM_005235.3

p.W911*

c.2732G>A

1 paper

NM_005235.3

p.I910_W911delFs

c.2730_2731delAT

1 paper

NM_005235.3

p.V908D

c.2723T>A

2 papers

NM_005235.3

p.W911*

c.2733G>A

6 papers

NM_005235.3

p.E912K

c.2734G>A

1 paper

NM_005235.3

p.G907V

c.2720G>T

2 papers

NM_005235.3

p.G907A

c.2720G>C

5 papers

NM_005235.3

p.G907E

c.2720G>A