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

47 papers

NM_000051.4

p.F582L

c.1746C>G

Surrounding Variants

47 papers

NM_000051.4

p.F582L

c.1746C>A

1 paper

NM_000051.4

p.Y583_I598del16

c.1747_1793del48

2 papers

NM_000051.4

p.Y583S

c.1748A>C

7 papers

NM_000051.4

p.Y583C

c.1748A>G

2 papers

NM_000051.4

p.Y583F

c.1748A>T

52 papers

NM_000051.4

p.F582L

c.1744T>C

1 paper

NM_000051.4

p.F582_Y583insC

c.1744_1748ins3

1 paper

NM_000051.4

p.F582fs

c.1744_1745fs

3 papers

NM_000051.4

p.Q584*

c.1750C>T

3 papers

NM_000051.4

p.L585_E586delFs

c.1753_1756del4

1 paper

NM_000051.4

p.L581*

c.1742T>A

1 paper

NM_000051.4

p.L581insFs

c.1743dupA