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.K477_S478ins0

c.1431_1433dupGTC

Surrounding Variants

1 paper

NM_000051.4

p.K477insFs

c.1430_1431insT

2 papers

NM_000051.4

p.K477R

c.1430A>G

1 paper

NM_000051.4

p.K477Q

c.1429A>C

1 paper

NM_000051.4

p.K477E

c.1429A>G

1 paper

NM_000051.4

p.K477*

c.1429A>T

1 paper

NM_000051.4

p.K477fs

c.1429_1430fs

4 papers

NM_000051.4

p.K477N

c.1431G>C

4 papers

NM_000051.4

p.K477N

c.1431G>T

4 papers

NM_000051.4

p.S478_K482del5

c.1432_1445del15

1 paper

NM_000051.4

p.Q476H

c.1428A>C

1 paper

NM_000051.4

p.Q476H

c.1428A>T

1 paper

NM_000051.4

p.K477del1

c.1429_1430delAAG