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

5 papers

NM_005235.3

p.P572L

c.1715C>T

Surrounding Variants

2 papers

NM_005235.3

p.P572S

c.1714C>T

1 paper

NM_005235.3

p.P572_G573Splc

c.1716+1G>T

2 papers

NM_005235.3

p.G571A

c.1712G>C

1 paper

NM_005235.3

p.G571E

c.1712G>A

1 paper

NM_005235.3

p.G571*

c.1711G>T

3 papers

NM_005235.3

p.H570R

c.1709A>G

1 paper

NM_005235.3

p.H570delins

c.1708_1709delinsAC

1 paper

NM_005235.3

p.H570Y

c.1708C>T

2 papers

NM_005235.3

p.P572_G573Splc

c.1716+6C>A

1 paper

NM_005235.3

p.H570N

c.1708C>A

1 paper

NM_005235.3

p.C569Y

c.1706G>A

1 paper

NM_005235.3

p.T568I

c.1703C>T