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.L1775fs

c.5323_5324fs

Surrounding Variants

1 paper

NM_000051.4

p.L1775V

c.5323T>G

1 paper

NM_000051.4

p.L1775*

c.5324T>A

1 paper

NM_000051.4

p.L1775S

c.5324T>C

1 paper

NM_000051.4

p.L1775*

c.5324T>G

1 paper

NM_000051.4

p.E1783_N1784ins13

c.5349_5350ins39

2 papers

NM_000051.4

p.E1776K

c.5326G>A

1 paper

NM_000051.4

p.E1776Q

c.5326G>C

5 papers

NM_000051.4

p.E1776*

c.5326G>T

4 papers

NM_000051.4

p.F1774fs

c.5320_5321fs

1 paper

NM_000051.4

p.F1774fs

c.5320_5321fs

2 papers

NM_000051.4

p.K1773_F1774Splc

c.5320-1G>A

1 paper

NM_000051.4

p.L1775delFs

c.5324delT