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.A244delFs

c.732delT

Surrounding Variants

2 papers

NM_000051.4

p.A244V

c.731C>T

4 papers

NM_000051.4

p.A244T

c.730G>A

2 papers

NM_000051.4

p.A244P

c.730G>C

1 paper

NM_000051.4

p.A244S

c.730G>T

7 papers

NM_000051.4

p.V245I

c.733G>A

1 paper

NM_000051.4

p.V245_N246ins5

c.733_737ins15

1 paper

NM_000051.4

p.V245insFs

c.734dupT

1 paper

NM_000051.4

p.V245F

c.733G>T

10 papers

NM_000051.4

p.L243S

c.728T>C

3 papers

NM_000051.4

p.V245A

c.734T>C

1 paper

NM_000051.4

p.L243W

c.728T>G

1 paper

NM_000051.4

p.V245_N246insFs

c.735_736insCA