Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.K50*

c.148A>T

Surrounding Variants

1 paper

NM_000051.4

p.K50Q

c.148A>C

1 paper

NM_000051.4

p.K50E

c.148A>G

1 paper

NM_000051.4

p.K50fs

c.148_149fs

1 paper

NM_000051.4

p.K50I

c.149A>T

2 papers

NM_000051.4

p.S49S

c.147C>G

2 papers

NM_000051.4

p.K50_Q51del2

c.148_152del6

1 paper

NM_000051.4

p.K50_R62delFs

c.148_185del38

1 paper

NM_000051.4

p.K50_Q51insFs

c.150_151insT

1 paper

NM_000051.4

p.K50N

c.150A>C

1 paper

NM_000051.4

p.K50N

c.150A>T

1 paper

NM_000051.4

p.S49Y

c.146C>A

1 paper

NM_000051.4

p.S49insFs

c.146_147insA