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.V1912L

c.5734G>C

Surrounding Variants

1 paper

NM_000051.4

p.V1912A

c.5735T>C

1 paper

NM_000051.4

p.V1912_D1914del0

c.5734_5742del9

1 paper

NM_000051.4

p.A1911V

c.5732C>T

1 paper

NM_000051.4

p.V1913M

c.5737G>A

8 papers

NM_000051.4

p.V1913G

c.5738T>G

9 papers

NM_000051.4

p.L1910H

c.5729T>A

2 papers

NM_000051.4

p.L1910P

c.5729T>C

4 papers

NM_000051.4

p.L1910I

c.5728C>A

1 paper

NM_000051.4

p.L1910F

c.5728C>T

1 paper

NM_000051.4

p.D1914N

c.5740G>A

2 papers

NM_000051.4

p.D1914H

c.5740G>C

3 papers

NM_000051.4

p.D1914G

c.5741A>G