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

4 papers

NM_000051.4

p.K1692N

c.5076A>C

Surrounding Variants

4 papers

NM_000051.4

p.K1692N

c.5076A>T

1 paper

NM_000051.4

p.K1692I

c.5075A>T

7 papers

NM_000051.4

p.D1693N

c.5077G>A

1 paper

NM_000051.4

p.D1693Y

c.5077G>T

1 paper

NM_000051.4

p.D1693fs

c.5077_5078fs

1 paper

NM_000051.4

p.K1692fs

c.5074_5075fs

2 papers

NM_000051.4

p.D1693A

c.5078A>C

1 paper

NM_000051.4

p.K1692*

c.5074A>T

65 papers

NM_000051.4

p.S1691R

c.5073T>A

1 paper

NM_000051.4

p.D1693E

c.5079T>A

65 papers

NM_000051.4

p.S1691R

c.5073T>G

1 paper

NM_000051.4

p.D1693E

c.5079T>G