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.R210W

c.628A>T

Surrounding Variants

1 paper

NM_005235.3

p.R210M

c.629G>T

2 papers

NM_005235.3

p.R210K

c.629G>A

1 paper

NM_005235.3

p.T209T

c.627A>T

1 paper

NM_005235.3

p.R210S

c.630G>T

1 paper

NM_005235.3

p.T209R

c.626C>G

1 paper

NM_005235.3

p.L208delFs

c.623delA

5 papers

NM_005235.3

p.T211M

c.632C>T

1 paper

NM_005235.3

p.T211R

c.632C>G

1 paper

NM_005235.3

p.T211T

c.633G>A

8 papers

NM_005235.3

p.V212L

c.634G>T

1 paper

NM_005235.3

p.L208Splc

c.623-1G>T

6 papers

NM_005235.3

p.V212L

c.634G>C