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.S1487*

c.4460C>A

Surrounding Variants

1 paper

NM_000051.4

p.S1487*

c.4460C>G

1 paper

NM_000051.4

p.S1487L

c.4460C>T

1 paper

NM_000051.4

p.L1488*

c.4463T>A

1 paper

NM_000051.4

p.L1488*

c.4463T>G

1 paper

NM_000051.4

p.L1488_R1489delFs

c.4464_4465delAC

1 paper

NM_000051.4

p.L1488L

c.4464A>G

1 paper

NM_000051.4

p.V1486M

c.4456G>A

1 paper

NM_000051.4

p.V1486L

c.4456G>C

1 paper

NM_000051.4

p.V1486L

c.4456G>T

13 papers

NM_000051.4

p.R1489C

c.4465C>T

11 papers

NM_000051.4

p.R1489H

c.4466G>A

3 papers

NM_000051.4

p.R1489L

c.4466G>T