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.K2710*

c.8128A>T

Surrounding Variants

1 paper

NM_000051.4

p.K2710fs

c.8128_8129fs

4 papers

NM_000051.4

p.K2710R

c.8129A>G

1 paper

NM_000051.4

p.K2710delFs

c.8128delA

2 papers

NM_000051.4

p.G2709D

c.8126G>A

1 paper

NM_000051.4

p.G2709delFs

c.8127delC

5 papers

NM_000051.4

p.G2709S

c.8125G>A

1 paper

NM_000051.4

p.G2709C

c.8125G>T

1 paper

NM_000051.4

p.E2711*

c.8131G>T

8 papers

NM_000051.4

p.D2708E

c.8124T>A

7 papers

NM_000051.4

p.D2708E

c.8124T>G

1 paper

NM_000051.4

p.G2709_K2710del2

c.8125_8129del6

1 paper

NM_000051.4

p.D2708G

c.8123A>G