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.S575fs

c.1723_1724fs

Surrounding Variants

2 papers

NM_000051.4

p.S575A

c.1723T>G

3 papers

NM_000051.4

p.E574D

c.1722A>C

2 papers

NM_000051.4

p.E574E

c.1722A>G

3 papers

NM_000051.4

p.E574D

c.1722A>T

2 papers

NM_000051.4

p.S575*

c.1724C>A

1 paper

NM_000051.4

p.S575insFs

c.1725dupA

1 paper

NM_000051.4

p.S575*

c.1724C>G

1 paper

NM_000051.4

p.S575L

c.1724C>T

1 paper

NM_000051.4

p.S575S

c.1725A>G

1 paper

NM_000051.4

p.S575_I576del2

c.1723_1727del6

1 paper

NM_000051.4

p.I576fs

c.1726_1727fs

3 papers

NM_000051.4

p.I576V

c.1726A>G