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

2 papers

NM_005235.3

p.S12R

c.34A>C

Surrounding Variants

4 papers

NM_005235.3

p.S12I

c.35G>T

5 papers

NM_005235.3

p.S12N

c.35G>A

2 papers

NM_005235.3

p.S12R

c.36C>G

2 papers

NM_005235.3

p.S12R

c.36C>A

1 paper

NM_005235.3

p.L13F

c.37C>T

1 paper

NM_005235.3

p.W10C

c.30G>T

1 paper

NM_005235.3

p.W10C

c.30G>C

1 paper

NM_005235.3

p.W10L

c.29G>T

1 paper

NM_005235.3

p.L14F

c.40C>T

1 paper

NM_005235.3

p.W8insFs

c.23_24insA

1 paper

NM_005235.3

p.W8R

c.22T>C

2 papers

NM_005235.3

p.W8R

c.22T>A