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.D985H

c.2953G>C

Surrounding Variants

4 papers

NM_000051.4

p.D985G

c.2954A>G

3 papers

NM_000051.4

p.D985V

c.2954A>T

1 paper

NM_000051.4

p.D985_T989del5

c.2953_2966del15

1 paper

NM_000051.4

p.V986_C987delFs

c.2958_2961del4

3 papers

NM_000051.4

p.Q984L

c.2951A>T

1 paper

NM_000051.4

p.Q984K

c.2950C>A

3 papers

NM_000051.4

p.Q984E

c.2950C>G

1 paper

NM_000051.4

p.V986L

c.2956G>C

1 paper

NM_000051.4

p.V986delFs

c.2957delT

2 papers

NM_000051.4

p.V986_C987delFs

c.2958_2959delTT

2 papers

NM_000051.4

p.V986A

c.2957T>C

1 paper

NM_000051.4

p.V986insFs

c.2957_2958insG