Varaico: Literature-Extracted Genetic Variants

BTK

1,389 papers

RefSeq Summary

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure ...

Pfam Domains

PHaa 4–133UCSCPH domain

BTKaa 141–170UCSCBTK motif

SH3_1aa 220–266UCSCSH3 domain

SH2aa 281–355UCSCSH2 domain

SH2aa 281–362UCSCSH2 domain

PK_Tyr_Ser-Thraa 402–651UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Bruton tyrosine kinase

HGNC Previous Symbols

AGMX1; IMD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000061.3

p.Q15*

c.43C>T

Surrounding Variants

1 paper

NM_000061.3

p.Q15fs

c.43_44fs

1 paper

NM_000061.3

p.S14S

c.42C>A

1 paper

NM_000061.3

p.Q15L

c.44A>T

1 paper

NM_000061.3

p.S14F

c.41C>T

5 papers

NM_000061.3

p.S14Y

c.41C>A

1 paper

NM_000061.3

p.Q16*

c.46C>T

1 paper

NM_000061.3

p.Q15delFs

c.45delT

1 paper

NM_000061.3

p.Q16P

c.47A>C

16 papers

NM_000061.3

p.R13*

c.37C>T

1 paper

NM_000061.3

p.K12N

c.36G>T

1 paper

NM_000061.3

p.K12N

c.36G>C

8 papers

NM_000061.3

p.K12R

c.35A>G