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.Q1919H

c.5757A>C

Surrounding Variants

1 paper

NM_000051.4

p.Q1919H

c.5757A>T

8 papers

NM_000051.4

p.Q1919P

c.5756A>C

1 paper

NM_000051.4

p.K1920E

c.5758A>G

1 paper

NM_000051.4

p.Q1919L

c.5756A>T

1 paper

NM_000051.4

p.R1921delFs

c.5761_5762delAG

1 paper

NM_000051.4

p.K1920R

c.5759A>G

4 papers

NM_000051.4

p.Q1919*

c.5755C>T

1 paper

NM_000051.4

p.R1921insFs

c.5761_5762insT

4 papers

NM_000051.4

p.R1921G

c.5761A>G

2 papers

NM_000051.4

p.R1921*

c.5761A>T

5 papers

NM_000051.4

p.R1921fs

c.5761_5762fs

18 papers

NM_000051.4

p.R1918T

c.5753G>C