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.L1524L

c.4572T>C

Surrounding Variants

1 paper

NM_000051.4

p.I1525fs

c.4573_4574fs

2 papers

NM_000051.4

p.I1525fs

c.4573_4574fs

2 papers

NM_000051.4

p.L1524R

c.4571T>G

1 paper

NM_000051.4

p.L1524I

c.4570C>A

1 paper

NM_000051.4

p.L1524insFs

c.4571_4572insAT

3 papers

NM_000051.4

p.L1524F

c.4570C>T

1 paper

NM_000051.4

p.L1524delFs

c.4572delT

1 paper

NM_000051.4

p.I1525T

c.4574T>C

1 paper

NM_000051.4

p.I1525insFs

c.4575dupA

1 paper

NM_000051.4

p.I1525insFs

c.4574_4575ins5

3 papers

NM_000051.4

p.L1527delFs

c.4579delC

2 papers

NM_000051.4

p.P1526T

c.4576C>A