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.K828*

c.2482A>T

Surrounding Variants

2 papers

NM_000051.4

p.K828fs

c.2482_2483fs

3 papers

NM_000051.4

p.K828fs

c.2482_2483fs

1 paper

NM_000051.4

p.K827K

c.2481A>G

1 paper

NM_000051.4

p.K828R

c.2483A>G

1 paper

NM_000051.4

p.K828M

c.2483A>T

1 paper

NM_000051.4

p.K827T

c.2480A>C

3 papers

NM_000051.4

p.K827R

c.2480A>G

1 paper

NM_000051.4

p.K828K

c.2484G>A

1 paper

NM_000051.4

p.K827fs

c.2479_2480fs

1 paper

NM_000051.4

p.K827*

c.2479A>T

2 papers

NM_000051.4

p.P829T

c.2485C>A

1 paper

NM_000051.4

p.P829A

c.2485C>G