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.S1863_H1865insFs

c.5588_5595dup8

Surrounding Variants

3 papers

NM_000051.4

p.L1862H

c.5585T>A

2 papers

NM_000051.4

p.S1863T

c.5587T>A

1 paper

NM_000051.4

p.L1862P

c.5585T>C

1 paper

NM_000051.4

p.S1863fs

c.5587_5588fs

1 paper

NM_000051.4

p.S1863Y

c.5588C>A

3 papers

NM_000051.4

p.L1862F

c.5584C>T

2 papers

NM_000051.4

p.S1863F

c.5588C>T

1 paper

NM_000051.4

p.T1864fs

c.5590_5591fs

1 paper

NM_000051.4

p.T1864A

c.5590A>G

1 paper

NM_000051.4

p.T1864insFs

c.5592dupA

2 papers

NM_000051.4

p.T1864delFs

c.5592delA

1 paper

NM_000051.4

p.L1861delFs

c.5582_5583delTG