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

53 papers

NM_002227.4

p.S703I

c.2108G>T

Surrounding Variants

2 papers

NM_002227.4

p.S703T

c.2108G>C

1 paper

NM_002227.4

p.S703R

c.2109C>G

1 paper

NM_002227.4

p.S703R

c.2109C>A

4 papers

NM_002227.4

p.S703C

c.2107A>T

1 paper

NM_002227.4

p.S703R

c.2107A>C

1 paper

NM_002227.4

p.L702P

c.2105T>C

1 paper

NM_002227.4

p.Y704F

c.2111A>T

1 paper

NM_002227.4

p.L702V

c.2104C>G

3 papers

NM_002227.4

p.A701V

c.2102C>T

1 paper

NM_002227.4

p.A701G

c.2102C>G

1 paper

NM_002227.4

p.A701D

c.2102C>A

1 paper

NM_002227.4

p.A701S

c.2101G>T