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

6 papers

NM_000051.4

p.K2700N

c.8100A>T

Surrounding Variants

6 papers

NM_000051.4

p.K2700N

c.8100A>C

1 paper

NM_000051.4

p.I2701fs

c.8101_8102fs

2 papers

NM_000051.4

p.I2701L

c.8101A>C

1 paper

NM_000051.4

p.K2700T

c.8099A>C

1 paper

NM_000051.4

p.K2700R

c.8099A>G

2 papers

NM_000051.4

p.I2701L

c.8101A>T

1 paper

NM_000051.4

p.I2702del1

c.8104_8105delATA

1 paper

NM_000051.4

p.I2701fs

c.8101_8102fs

18 papers

NM_000051.4

p.K2700*

c.8098A>T

3 papers

NM_000051.4

p.I2701_I2702delFs

c.8103_8104delAA

1 paper

NM_000051.4

p.I2701M

c.8103A>G

3 papers

NM_000051.4

p.I2702fs

c.8104_8105fs