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.K750_S751Splc

c.2251-67A>C

Surrounding Variants

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-64G>A

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-63T>G

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-82C>T

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-85T>C

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-43T>G

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-98T>A

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-33T>A

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-111T>G

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-19T>C

1 paper

NM_000051.4

p.K750_S751Splc

c.2251-11A>G

19 papers

NM_000051.4

p.K750_S751Splc

c.2251-10T>G

6 papers

NM_000051.4

p.K750_S751Splc

c.2251-4A>G