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

5 papers

NM_000051.4

p.P2903S

c.8707C>T

Surrounding Variants

1 paper

NM_000051.4

p.P2903fs

c.8707_8708fs

1 paper

NM_000051.4

p.P2903L

c.8708C>T

2 papers

NM_000051.4

p.P2903delFs

c.8708delC

3 papers

NM_000051.4

p.E2904Q

c.8710G>C

1 paper

NM_000051.4

p.E2904*

c.8710G>T

1 paper

NM_000051.4

p.E2904fs

c.8710_8711fs

12 papers

NM_000051.4

p.E2904G

c.8711A>G

1 paper

NM_000051.4

p.E2904V

c.8711A>T

2 papers

NM_000051.4

p.E2904D

c.8712G>C

2 papers

NM_000051.4

p.T2905insFs

c.8713_8714insCA

2 papers

NM_000051.4

p.E2904D

c.8712G>T

3 papers

NM_000051.4

p.T2905P

c.8713A>C