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

1 paper

NM_000051.4

p.A20fs

c.58_59fs

Surrounding Variants

1 paper

NM_000051.4

p.A20T

c.58G>A

1 paper

NM_000051.4

p.R19_A20ins1

c.57_58insATT

1 paper

NM_000051.4

p.R19_A20insFs

c.57_58insG

1 paper

NM_000051.4

p.A20D

c.59C>A

1 paper

NM_000051.4

p.A20G

c.59C>G

2 papers

NM_000051.4

p.A20V

c.59C>T

1 paper

NM_000051.4

p.A20delFs

c.60delT

6 papers

NM_000051.4

p.R19K

c.56G>A

1 paper

NM_000051.4

p.R19ins1

c.56_57insGCC

1 paper

NM_000051.4

p.A20A

c.60T>A

1 paper

NM_000051.4

p.T21insFs

c.61dupA

1 paper

NM_000051.4

p.T21delFs

c.62_63delCA