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.A1762T

c.5284G>A

Surrounding Variants

2 papers

NM_000051.4

p.A1762V

c.5285C>T

1 paper

NM_000051.4

p.A1762A

c.5286C>A

5 papers

NM_000051.4

p.Y1763insFs

c.5288_5289insGA

3 papers

NM_000051.4

p.Y1763fs

c.5287_5288fs

1 paper

NM_000051.4

p.Y1763C

c.5288A>G

1 paper

NM_000051.4

p.Y1763_L1764delFs

c.5289_5290delTC

2 papers

NM_000051.4

p.M1760I

c.5280G>A

2 papers

NM_000051.4

p.M1760I

c.5280G>C

2 papers

NM_000051.4

p.M1760I

c.5280G>T

3 papers

NM_000051.4

p.Y1763*

c.5289T>A

1 paper

NM_000051.4

p.Y1763Y

c.5289T>C

3 papers

NM_000051.4

p.Y1763*

c.5289T>G