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.C1509insFs

c.4525_4526ins4

Surrounding Variants

2 papers

NM_000051.4

p.C1509R

c.4525T>C

1 paper

NM_000051.4

p.C1509G

c.4525T>G

1 paper

NM_000051.4

p.C1509fs

c.4525_4526fs

5 papers

NM_000051.4

p.Y1508*

c.4524C>A

1 paper

NM_000051.4

p.Y1508_C1509insFs

c.4524_4525insA

5 papers

NM_000051.4

p.Y1508*

c.4524C>G

1 paper

NM_000051.4

p.C1509Y

c.4526G>A

1 paper

NM_000051.4

p.Y1508S

c.4523A>C

2 papers

NM_000051.4

p.C1509*

c.4527T>A

3 papers

NM_000051.4

p.Y1508insFs

c.4523dupA

1 paper

NM_000051.4

p.Y1508fs

c.4522_4523fs

1 paper

NM_000051.4

p.K1510M

c.4529A>T