Varaico: Literature-Extracted Genetic Variants

JAK1

1,174 papers

RefSeq Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to...

Pfam Domains

FERM_F1aa 36–129UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 147–277UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 284–421UCSCJak1 pleckstrin homology-like domain

SH2_1aa 438–546UCSCSH2 domain

PK_Tyr_Ser-Thraa 583–845UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 875–1149UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 1

HGNC Previous Symbol

JAK1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002227.4

p.A634G

c.1901C>G

Surrounding Variants

1 paper

NM_002227.4

p.A634V

c.1901C>T

54 papers

NM_002227.4

p.A634D

c.1901C>A

1 paper

NM_002227.4

p.A634S

c.1900G>T

1 paper

NM_002227.4

p.A634P

c.1900G>C

1 paper

NM_002227.4

p.A634T

c.1900G>A

1 paper

NM_002227.4

p.A634fs

c.1900_1901fs

1 paper

NM_002227.4

p.F635V

c.1903T>G

1 paper

NM_002227.4

p.F635S

c.1904T>C

1 paper

NM_002227.4

p.F636L

c.1906T>C

1 paper

NM_002227.4

p.F636S

c.1907T>C

1 paper

NM_002227.4

p.F636L

c.1908C>G

1 paper

NM_002227.4

p.F636L

c.1908C>A