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.L722P

c.2165T>C

Surrounding Variants

1 paper

NM_002227.4

p.L722Q

c.2165T>A

1 paper

NM_002227.4

p.L722fs

c.2164_2165fs

2 papers

NM_002227.4

p.A723S

c.2167G>T

1 paper

NM_002227.4

p.A723P

c.2167G>C

1 paper

NM_002227.4

p.A723T

c.2167G>A

1 paper

NM_002227.4

p.A723V

c.2168C>T

1 paper

NM_002227.4

p.A723G

c.2168C>G

5 papers

NM_002227.4

p.A723D

c.2168C>A

1 paper

NM_002227.4

p.L721F

c.2161C>T

1 paper

NM_002227.4

p.L721I

c.2161C>A

7 papers

NM_002227.4

p.R724C

c.2170C>T

1 paper

NM_002227.4

p.L720L

c.2160C>T