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.L436R

c.1307T>G

Surrounding Variants

3 papers

NM_000051.4

p.L436Q

c.1307T>A

1 paper

NM_000051.4

p.L436P

c.1307T>C

1 paper

NM_000051.4

p.L436M

c.1306C>A

1 paper

NM_000051.4

p.L436V

c.1306C>G

1 paper

NM_000051.4

p.L436L

c.1306C>T

1 paper

NM_000051.4

p.M437_L439delFs

c.1310_1317del8

1 paper

NM_000051.4

p.L436insFs

c.1306_1307dupCT

1 paper

NM_000051.4

p.M437L

c.1309A>C

2 papers

NM_000051.4

p.M437V

c.1309A>G

43 papers

NM_000051.4

p.M437L

c.1309A>T

2 papers

NM_000051.4

p.M437_I438delFs

c.1310_1313del4

5 papers

NM_000051.4

p.L435*

c.1304T>A