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.I1453fs

c.4357_4358fs

Surrounding Variants

1 paper

NM_000051.4

p.I1453V

c.4357A>G

1 paper

NM_000051.4

p.I1453fs

c.4357_4358fs

2 papers

NM_000051.4

p.I1453T

c.4358T>C

5 papers

NM_000051.4

p.I1453R

c.4358T>G

1 paper

NM_000051.4

p.K1454Q

c.4360A>C

1 paper

NM_000051.4

p.K1454E

c.4360A>G

1 paper

NM_000051.4

p.D1452H

c.4354G>C

1 paper

NM_000051.4

p.D1452delFs

c.4355delA

3 papers

NM_000051.4

p.D1452delFs

c.4355_4356delAT

1 paper

NM_000051.4

p.K1454R

c.4361A>G

23 papers

NM_000051.4

p.K1454N

c.4362A>C

1 paper

NM_000051.4

p.K1451R

c.4352A>G