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.L33insFs

c.97_98insC

Surrounding Variants

5 papers

NM_000051.4

p.R32H

c.95G>A

2 papers

NM_000051.4

p.R32L

c.95G>T

4 papers

NM_000051.4

p.L33delFs

c.97delC

1 paper

NM_000051.4

p.R32_D36delFs

c.96_108del13

1 paper

NM_000051.4

p.R32G

c.94C>G

25 papers

NM_000051.4

p.R32C

c.94C>T

1 paper

NM_000051.4

p.L33fs

c.97_98fs

1 paper

NM_000051.4

p.L33_I34ins0

c.99_101dupGAT

1 paper

NM_000051.4

p.L33L

c.97C>T

5 papers

NM_000051.4

p.K31K

c.93G>A

2 papers

NM_000051.4

p.K31N

c.93G>C

2 papers

NM_000051.4

p.K31N

c.93G>T