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.P943S

c.2827C>T

Surrounding Variants

1 paper

NM_005235.3

p.P943L

c.2828C>T

2 papers

NM_005235.3

p.P942H

c.2825C>A

4 papers

NM_005235.3

p.P942S

c.2824C>T

5 papers

NM_005235.3

p.I944V

c.2830A>G

4 papers

NM_005235.3

p.Q941*

c.2821C>T

1 paper

NM_005235.3

p.C945*

c.2835C>A

1 paper

NM_005235.3

p.P940H

c.2819C>A

1 paper

NM_005235.3

p.T946A

c.2836A>G

1 paper

NM_005235.3

p.L939F

c.2817G>T

1 paper

NM_005235.3

p.L939F

c.2817G>C

1 paper

NM_005235.3

p.T946_I947insFs

c.2838_2839insC

1 paper

NM_005235.3

p.I947T

c.2840T>C