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.G565D

c.1694G>A

Surrounding Variants

1 paper

NM_005235.3

p.G565V

c.1694G>T

1 paper

NM_005235.3

p.G565C

c.1693G>T

1 paper

NM_005235.3

p.D564Y

c.1690G>T

1 paper

NM_005235.3

p.D564H

c.1690G>C

11 papers

NM_005235.3

p.E563K

c.1687G>A

1 paper

NM_005235.3

p.M562I

c.1686G>T

1 paper

NM_005235.3

p.T568I

c.1703C>T

1 paper

NM_005235.3

p.M562V

c.1684A>G

1 paper

NM_005235.3

p.C569Y

c.1706G>A

1 paper

NM_005235.3

p.H570Y

c.1708C>T

1 paper

NM_005235.3

p.H570N

c.1708C>A

3 papers

NM_005235.3

p.H570R

c.1709A>G