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

2 papers

NM_000051.4

p.S2685T

c.8053T>A

Surrounding Variants

3 papers

NM_000051.4

p.S2685*

c.8054C>A

1 paper

NM_000051.4

p.S2685*

c.8054C>G

16 papers

NM_000051.4

p.Q2684*

c.8050C>T

2 papers

NM_000051.4

p.Q2684fs

c.8050_8051fs

6 papers

NM_000051.4

p.F2686L

c.8056T>C

1 paper

NM_000051.4

p.F2686fs

c.8056_8057fs

1 paper

NM_000051.4

p.Q2684insFs

c.8050dupC

5 papers

NM_000051.4

p.I2683M

c.8049A>G

1 paper

NM_000051.4

p.Q2684delFs

c.8050delC

3 papers

NM_000051.4

p.F2686S

c.8057T>C

1 paper

NM_000051.4

p.F2686C

c.8057T>G

4 papers

NM_000051.4

p.F2686L

c.8058T>A