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.L7F

c.19C>T

Surrounding Variants

1 paper

NM_005235.3

p.L7P

c.20T>C

1 paper

NM_005235.3

p.G6insFs

c.16_17insG

2 papers

NM_005235.3

p.G6V

c.17G>T

1 paper

NM_005235.3

p.W8R

c.22T>C

2 papers

NM_005235.3

p.W8R

c.22T>A

1 paper

NM_005235.3

p.W8insFs

c.23_24insA

1 paper

NM_005235.3

p.T5R

c.14C>G

10 papers

NM_005235.3

p.A4A

c.12G>C

5 papers

NM_005235.3

p.A4A

c.12G>A

6 papers

NM_005235.3

p.A4V

c.11C>T

1 paper

NM_005235.3

p.P3insFs

c.9dupG

4 papers

NM_005235.3

p.A4E

c.11C>A