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

2 papers

NM_000051.4

p.D479G

c.1436A>G

Surrounding Variants

1 paper

NM_000051.4

p.D479A

c.1436A>C

1 paper

NM_000051.4

p.D479V

c.1436A>T

3 papers

NM_000051.4

p.D479N

c.1435G>A

1 paper

NM_000051.4

p.D479H

c.1435G>C

4 papers

NM_000051.4

p.D479Y

c.1435G>T

1 paper

NM_000051.4

p.D479fs

c.1435_1436fs

1 paper

NM_000051.4

p.L480_L483delFs

c.1439_1448del10

1 paper

NM_000051.4

p.L480_W484del5

c.1438_1451del15

1 paper

NM_000051.4

p.S478S

c.1434A>C

1 paper

NM_000051.4

p.S478S

c.1434A>G

1 paper

NM_000051.4

p.S478S

c.1434A>T

2 papers

NM_000051.4

p.L480V

c.1438T>G